16-66788947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66788947
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66788947
    reference: chr 16
allele count: 39
allele frequency: 1.967510846534154e-3
allele num: 19822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*398C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.2116C>T
  hgvsp: ENSP00000462883.1:p.Arg706Trp
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1975C>T
  hgvsp: ENSP00000462977.1:p.Arg659Trp
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.2116C>T
  hgvsp: ENSP00000463762.1:p.Arg706Trp
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*398C>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg706Trp
num of homozygotes: 1
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/16-66788969-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66788969
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66788969
    reference: chr 16
allele count: 1
allele frequency: 5.044899606497831e-5
allele num: 19822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*376G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1953G>T
  hgvsp: ENSP00000462977.1:p.Trp651Cys
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.2094G>T
  hgvsp: ENSP00000463762.1:p.Trp698Cys
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*376G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.2094G>T
  hgvsp: ENSP00000462883.1:p.Trp698Cys
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp698Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

16-66788985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66788985
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66788985
    reference: chr 16
allele count: 1
allele frequency: 5.044899606497831e-5
allele num: 19822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1937G>A
  hgvsp: ENSP00000462977.1:p.Trp646Ter
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*360G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*360G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.2078G>A
  hgvsp: ENSP00000462883.1:p.Trp693Ter
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.2078G>A
  hgvsp: ENSP00000463762.1:p.Trp693Ter
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp693Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

16-66789027-ACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66789027
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66789024
    reference: chr 16
allele count: 19
allele frequency: 9.591115598182736e-4
allele num: 19810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.2033_2035delAAG
  hgvsp: ENSP00000462883.1:p.Glu678del
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1892_1894delAAG
  hgvsp: ENSP00000462977.1:p.Glu631del
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*315_*317delAAG
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.2033_2035delAAG
  hgvsp: ENSP00000463762.1:p.Glu678del
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*315_*317delAAG
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu678del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: ACTT
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

16-66789054-ATTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66789054
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66789051
    reference: chr 16
allele count: 1
allele frequency: 5.121376626037079e-5
allele num: 19526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*288_*290delGAA
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.2006_2008delGAA
  hgvsp: ENSP00000462883.1:p.Arg669del
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.2006_2008delGAA
  hgvsp: ENSP00000463762.1:p.Arg669del
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*288_*290delGAA
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1865_1867delGAA
  hgvsp: ENSP00000462977.1:p.Arg622del
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg669del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: ATTC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-66789077-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66789077
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66789077
    reference: chr 16
allele count: 1
allele frequency: 5.475851494907458e-5
allele num: 18262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*279-11T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1997-11T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1997-11T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1856-11T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*279-11T>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

16-66789088-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66789088
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66789089
    reference: chr 16
allele count: 1
allele frequency: 5.600358422939068e-5
allele num: 17856
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1856-23dupA
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*279-23dupA
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1997-23dupA
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*279-23dupA
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1997-23dupA
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

16-66789098-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66789098
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66789098
    reference: chr 16
allele count: 16
allele frequency: 9.143902160246885e-4
allele num: 17498
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1997-32A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*279-32A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1856-32A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*279-32A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1997-32A>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-66792635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792635
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792635
    reference: chr 16
allele count: 1
allele frequency: 5.568548836173293e-5
allele num: 17958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1996+41G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*125G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*319G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1855+41G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*278+41G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*278+41G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1996+41G>A
  variant of: http://identifiers.org/hgnc/26675
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-66792636-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792636
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792636
    reference: chr 16
allele count: 1
allele frequency: 5.566688933422401e-5
allele num: 17964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*318G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1996+40G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*278+40G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*278+40G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1855+40G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1996+40G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*124G>T
  variant of: http://identifiers.org/hgnc/26675
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

16-66792646-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792646
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792647
    reference: chr 16
allele count: 465
allele frequency: 3.552872860635697e-2
allele num: 13088
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1996+29dupT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*278+29dupT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*113dupT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1855+29dupT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*307dupT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*278+29dupT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1996+29dupT
  variant of: http://identifiers.org/hgnc/26675
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 2.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 2.5e0
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.5e0
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 8
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-66792646-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792646
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792645
    reference: chr 16
allele count: 174
allele frequency: 1.329462102689487e-2
allele num: 13088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*113delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1855+29delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1996+29delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*307delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*278+29delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1996+29delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*278+29delT
  variant of: http://identifiers.org/hgnc/26675
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 6.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 5
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: GA
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

16-66792655-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792655
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792655
    reference: chr 16
allele count: 116
allele frequency: 6.249326581187372e-3
allele num: 18562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*105T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*299T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1996+21T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1996+21T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1855+21T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*278+21T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*278+21T>C
  variant of: http://identifiers.org/hgnc/26675
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 4
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

16-66792657-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792657
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792657
    reference: chr 16
allele count: 11
allele frequency: 5.921619293712317e-4
allele num: 18576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*278+19A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*278+19A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*297A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1855+19A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*103A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1996+19A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1996+19A>T
  variant of: http://identifiers.org/hgnc/26675
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-66792690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792690
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792690
    reference: chr 16
allele count: 1
allele frequency: 5.070993914807302e-5
allele num: 19720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*264C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1982C>T
  hgvsp: ENSP00000463762.1:p.Thr661Ile
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1841C>T
  hgvsp: ENSP00000462977.1:p.Thr614Ile
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1982C>T
  hgvsp: ENSP00000462883.1:p.Thr661Ile
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*264C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*264C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*70C>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr661Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-66792714-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792714
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792714
    reference: chr 16
allele count: 7292
allele frequency: 3.680226102755627e-1
allele num: 19814
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1958A>G
  hgvsp: ENSP00000463762.1:p.Gln653Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*240A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*46A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*240A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1958A>G
  hgvsp: ENSP00000462883.1:p.Gln653Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1817A>G
  hgvsp: ENSP00000462977.1:p.Gln606Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*240A>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 300
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 425
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 9.75e1
  variant carriers: 1760
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 429
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7194
  bin: 9.75e1
  variant carriers: 5752
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 9
hgvs: p.Gln653Arg
num of homozygotes: 1477
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-66792714-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792714
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792714
    reference: chr 16
allele count: 1
allele frequency: 5.04693650953871e-5
allele num: 19814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*240A>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1958A>C
  hgvsp: ENSP00000463762.1:p.Gln653Pro
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*240A>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*240A>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1817A>C
  hgvsp: ENSP00000462977.1:p.Gln606Pro
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1958A>C
  hgvsp: ENSP00000462883.1:p.Gln653Pro
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*46A>C
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln653Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

16-66792718-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792718
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792718
    reference: chr 16
allele count: 1
allele frequency: 5.045408678102926e-5
allele num: 19820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*236A>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1954A>C
  hgvsp: ENST00000433154.1:c.1954A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*236A>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1813A>C
  hgvsp: ENST00000432602.1:c.1813A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*42A>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*236A>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1954A>C
  hgvsp: ENST00000558713.2:c.1954A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg652Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

16-66792727-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792727
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792727
    reference: chr 16
allele count: 1
allele frequency: 5.045917852457362e-5
allele num: 19818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1804C>G
  hgvsp: ENSP00000462977.1:p.Pro602Ala
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1945C>G
  hgvsp: ENSP00000463762.1:p.Pro649Ala
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*227C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1945C>G
  hgvsp: ENSP00000462883.1:p.Pro649Ala
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*227C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*227C>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro649Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

16-66792743-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792743
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792743
    reference: chr 16
allele count: 1
allele frequency: 5.046427129592248e-5
allele num: 19816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*213-2A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1790-2A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*213-2A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1931-2A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*213-2A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*19-2A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1931-2A>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1931-2A>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

16-66792744-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792744
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792743
    reference: chr 16
allele count: 1
allele frequency: 5.046427129592248e-5
allele num: 19816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*213-4delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*213-4delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*19-4delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1931-4delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1790-4delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*213-4delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1931-4delT
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1931-4delT
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: GA
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-66792748-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792748
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792748
    reference: chr 16
allele count: 1
allele frequency: 5.046427129592248e-5
allele num: 19816
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1931-7T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*213-7T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1790-7T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1931-7T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*19-7T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*213-7T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*213-7T>C
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6549
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1931-7T>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/16-66792759-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792759
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792759
    reference: chr 16
allele count: 2
allele frequency: 1.00928542591845e-4
allele num: 19816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1931-18G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1931-18G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1790-18G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*213-18G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*19-18G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*213-18G>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*213-18G>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6549
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

16-66792765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792765
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792765
    reference: chr 16
allele count: 4
allele frequency: 2.018570851836899e-4
allele num: 19816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*19-24C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*213-24C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*213-24C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*213-24C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1931-24C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1931-24C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1790-24C>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

16-66792775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792775
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792775
    reference: chr 16
allele count: 1
allele frequency: 5.046427129592248e-5
allele num: 19816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1790-34G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1931-34G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*213-34G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*213-34G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*213-34G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1931-34G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*19-34G>A
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-66792776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66792776
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66792776
    reference: chr 16
allele count: 5
allele frequency: 2.523468254769355e-4
allele num: 19814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1931-35C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*213-35C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*213-35C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1790-35C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1931-35C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*213-35C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*19-35C>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6549
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

16-66793008-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793008
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793008
    reference: chr 16
allele count: 1
allele frequency: 6.541077969649399e-5
allele num: 15288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.*18+10G>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1789+36G>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*212+36G>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1930+36G>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*212+36G>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1930+36G>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*212+36G>C
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

16-66793059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793059
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793059
    reference: chr 16
allele count: 1
allele frequency: 5.254308532997058e-5
allele num: 19032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*197C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.53C>T
  hgvsp: ENSP00000462842.1:p.Leu19Phe
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1915C>T
  hgvsp: ENSP00000463762.1:p.Leu639Phe
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1915C>T
  hgvsp: ENSP00000462883.1:p.Leu639Phe
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1774C>T
  hgvsp: ENSP00000462977.1:p.Leu592Phe
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu639Phe
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

16-66793087-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793087
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793087
    reference: chr 16
allele count: 2
allele frequency: 1.012863364732098e-4
allele num: 19746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.25C>G
  hgvsp: ENSP00000462842.1:p.Asp9Glu
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*169C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1746C>G
  hgvsp: ENSP00000462977.1:p.Asp582Glu
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1887C>G
  hgvsp: ENSP00000462883.1:p.Asp629Glu
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*169C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1887C>G
  hgvsp: ENSP00000463762.1:p.Asp629Glu
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*169C>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp629Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

16-66793105-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793105
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793105
    reference: chr 16
allele count: 1
allele frequency: 5.053567818880129e-5
allele num: 19788
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1869C>G
  hgvsp: ENST00000433154.1:c.1869C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1728C>G
  hgvsp: ENST00000432602.1:c.1728C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1869C>G
  hgvsp: ENST00000558713.2:c.1869C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*151C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462842
  ensembl transcript: ENST00000559403
  gene symbol: CCDC79
  hgvsc: ENST00000559403.1:c.7C>G
  hgvsp: ENST00000559403.1:c.7C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*151C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*151C>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val623Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

16-66793115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793115
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793115
    reference: chr 16
allele count: 3
allele frequency: 1.51530457621982e-4
allele num: 19798
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1859G>A
  hgvsp: ENSP00000463762.1:p.Arg620His
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1859G>A
  hgvsp: ENSP00000462883.1:p.Arg620His
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*141G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*141G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1718G>A
  hgvsp: ENSP00000462977.1:p.Arg573His
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*141G>A
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg620His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

16-66793122-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793122
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793122
    reference: chr 16
allele count: 2
allele frequency: 1.01010101010101e-4
allele num: 19800
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1852T>C
  hgvsp: ENSP00000463762.1:p.Cys618Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*134T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1711T>C
  hgvsp: ENSP00000462977.1:p.Cys571Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1852T>C
  hgvsp: ENSP00000462883.1:p.Cys618Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*134T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*134T>C
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys618Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-66793136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793136
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793136
    reference: chr 16
allele count: 1
allele frequency: 5.054589567327133e-5
allele num: 19784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1697C>T
  hgvsp: ENSP00000462977.1:p.Ser566Phe
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1838C>T
  hgvsp: ENSP00000463762.1:p.Ser613Phe
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1838C>T
  hgvsp: ENSP00000462883.1:p.Ser613Phe
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*120C>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser613Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/16-66793155-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793155
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793155
    reference: chr 16
allele count: 1
allele frequency: 5.080268238162975e-5
allele num: 19684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*101T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1678T>G
  hgvsp: ENSP00000462977.1:p.Phe560Val
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1819T>G
  hgvsp: ENSP00000463762.1:p.Phe607Val
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1819T>G
  hgvsp: ENSP00000462883.1:p.Phe607Val
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*101T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*101T>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5841
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe607Val
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: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

16-66793178-TCTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793178
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793175
    reference: chr 16
allele count: 1
allele frequency: 5.21593991237221e-5
allele num: 19172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1793_1795delTAG
  hgvsp: ENSP00000462883.1:p.Val598del
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*75_*77delTAG
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*75_*77delTAG
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*75_*77delTAG
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1652_1654delTAG
  hgvsp: ENSP00000462977.1:p.Val551del
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1793_1795delTAG
  hgvsp: ENSP00000463762.1:p.Val598del
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val598del
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: TCTA
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

16-66793211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793211
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793211
    reference: chr 16
allele count: 1
allele frequency: 5.64334085778781e-5
allele num: 17720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*63-18T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1781-18T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*63-18T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1781-18T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*63-18T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1640-18T>C
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

16-66793226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66793226
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66793226
    reference: chr 16
allele count: 6305
allele frequency: 3.801857211770381e-1
allele num: 16584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1781-33A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1640-33A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*63-33A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*63-33A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*63-33A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1781-33A>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 1077
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.25e1
  variant carriers: 496
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.5e0
  variant carriers: 649
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.5e0
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 1.25e1
  variant carriers: 1493
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 1011
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.75e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 6.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 195
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.25e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.5e0
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 112
num of homozygotes: 1274
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-66801299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66801299
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66801299
    reference: chr 16
allele count: 7
allele frequency: 3.257935399795215e-4
allele num: 21486
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1780+19G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*62+19G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1780+19G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*62+19G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+2547G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*62+19G>A
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

16-66801331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66801331
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66801331
    reference: chr 16
allele count: 5
allele frequency: 2.311176851252658e-4
allele num: 21634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1767G>A
  hgvsp: ENST00000558713.2:c.1767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+2515G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1767G>A
  hgvsp: ENST00000433154.1:c.1767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*49G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1933G>A
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr589Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

16-66801356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66801356
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66801356
    reference: chr 16
allele count: 1
allele frequency: 4.612120653076284e-5
allele num: 21682
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1742C>T
  hgvsp: ENSP00000463762.1:p.Thr581Ile
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+2490C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1742C>T
  hgvsp: ENSP00000462883.1:p.Thr581Ile
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*24C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1908C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr581Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-66801357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66801357
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66801357
    reference: chr 16
allele count: 1
allele frequency: 4.612120653076284e-5
allele num: 21682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1741A>G
  hgvsp: ENSP00000462883.1:p.Thr581Ala
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*23A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1741A>G
  hgvsp: ENSP00000463762.1:p.Thr581Ala
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1907A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*23A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+2489A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*23A>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr581Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

16-66801375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66801375
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66801375
    reference: chr 16
allele count: 1
allele frequency: 4.613823013749193e-5
allele num: 21674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.*5G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1723G>A
  hgvsp: ENSP00000462883.1:p.Val575Ile
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1889G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1723G>A
  hgvsp: ENSP00000463762.1:p.Val575Ile
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+2471G>A
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val575Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

16-66801388-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66801388
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66801388
    reference: chr 16
allele count: 1
allele frequency: 4.616805170821791e-5
allele num: 21660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1519A>G
  hgvsp: ENSP00000464579.1:p.Asn507Asp
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+2458A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1710A>G
  hgvsp: ENSP00000462883.1:p.Ile570Met
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1876A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1710A>G
  hgvsp: ENSP00000463762.1:p.Ile570Met
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1645A>G
  hgvsp: ENSP00000462037.1:p.Asn549Asp
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1519A>G
  hgvsp: ENSP00000462236.1:p.Asn507Asp
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile570Met
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/16-66801407-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66801407
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66801407
    reference: chr 16
allele count: 1
allele frequency: 4.644681839294008e-5
allele num: 21530
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1691T>G
  hgvsp: ENSP00000463762.1:p.Phe564Cys
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1500T>G
  hgvsp: ENSP00000462236.1:p.Ile500Met
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1857T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1691T>G
  hgvsp: ENSP00000462883.1:p.Phe564Cys
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+2439T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1500T>G
  hgvsp: ENSP00000464579.1:p.Ile500Met
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1626T>G
  hgvsp: ENSP00000462037.1:p.Ile542Met
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe564Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-66801452-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66801452
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66801451
    reference: chr 16
allele count: 1
allele frequency: 4.77326968973747e-5
allele num: 20950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1685-40delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+2393delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1494-40delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1620-40delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1494-40delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1851-40delT
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1685-40delT
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: GA
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

16-66802013-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66802013
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66802013
    reference: chr 16
allele count: 1
allele frequency: 5.045917852457362e-5
allele num: 19818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1494-600G>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1494-600G>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1851-600G>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1678G>C
  hgvsp: ENSP00000462883.1:p.Val560Leu
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+1833G>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1678G>C
  hgvsp: ENSP00000463762.1:p.Val560Leu
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1620-600G>C
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val560Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

16-66802013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66802013
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66802013
    reference: chr 16
allele count: 1
allele frequency: 5.045917852457362e-5
allele num: 19818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1851-600G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+1833G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1494-600G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1678G>A
  hgvsp: ENSP00000462883.1:p.Val560Ile
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1494-600G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1620-600G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1678G>A
  hgvsp: ENSP00000463762.1:p.Val560Ile
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val560Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

16-66802054-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66802054
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66802054
    reference: chr 16
allele count: 1
allele frequency: 5.049484952534841e-5
allele num: 19804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+1792A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1494-641A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1637A>T
  hgvsp: ENSP00000462883.1:p.His546Leu
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1620-641A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1851-641A>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1637A>T
  hgvsp: ENSP00000463762.1:p.His546Leu
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1494-641A>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His546Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

16-66802055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66802055
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66802055
    reference: chr 16
allele count: 2
allele frequency: 1.009896990506968e-4
allele num: 19804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1636C>T
  hgvsp: ENSP00000462883.1:p.His546Tyr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1494-642C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+1791C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1636C>T
  hgvsp: ENSP00000463762.1:p.His546Tyr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1494-642C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1620-642C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1851-642C>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 2
hgvs: p.His546Tyr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

16-66802074-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66802074
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66802074
    reference: chr 16
allele count: 1
allele frequency: 5.052546483427647e-5
allele num: 19792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1494-661T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1620-3T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1620-661T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1620-3T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1851-661T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1494-661T>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+1772T>C
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1620-3T>C
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

16-66802118-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66802118
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66802118
    reference: chr 16
allele count: 1
allele frequency: 5.075111652456354e-5
allele num: 19704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1494-705C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1851-705C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+1728C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1620-705C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1620-47C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1494-705C>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1620-47C>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-64664855-GGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664855
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664853
    reference: chr 11
allele count: 1
allele frequency: 4.588839941262849e-5
allele num: 21792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4560+27_4560+28delTC
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.170_171delTC
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5150+27_5150+28delTC
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5156+27_5156+28delTC
  variant of: http://identifiers.org/hgnc/29028
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: GGA
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

16-66803807-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66803807
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66803807
    reference: chr 16
allele count: 6
allele frequency: 5.714285714285715e-4
allele num: 10500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1493+59A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1639+39A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1619+59A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1850+59A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1493+59A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1619+59A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1619+59A>G
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/16-66803862-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66803862
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66803862
    reference: chr 16
allele count: 1
allele frequency: 5.555555555555556e-5
allele num: 18000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1850+4T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1619+4T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1619+4T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1493+4T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1493+4T>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1623T>G
  hgvsp: ENSP00000462977.1:p.Tyr541Ter
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1619+4T>G
  variant of: http://identifiers.org/hgnc/26675
canonical: false
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr541Ter
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

16-66803872-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66803872
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66803872
    reference: chr 16
allele count: 1
allele frequency: 4.983057604145904e-5
allele num: 20068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1613A>C
  hgvsp: ENSP00000462037.1:p.Gln538Pro
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1613A>C
  hgvsp: ENSP00000462883.1:p.Gln538Pro
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1844A>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1487A>C
  hgvsp: ENSP00000464579.1:p.Gln496Pro
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1613A>C
  hgvsp: ENSP00000463762.1:p.Gln538Pro
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1613A>C
  hgvsp: ENSP00000462977.1:p.Gln538Pro
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1487A>C
  hgvsp: ENSP00000462236.1:p.Gln496Pro
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln538Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

16-66803904-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66803904
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66803904
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 21696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1455A>G
  hgvsp: ENST00000415744.1:c.1455A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1581A>G
  hgvsp: ENST00000433154.1:c.1581A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1581A>G
  hgvsp: ENST00000558713.2:c.1581A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1812A>G
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1581A>G
  hgvsp: ENST00000432602.1:c.1581A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1455A>G
  hgvsp: ENST00000313294.3:c.1455A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1581A>G
  hgvsp: ENST00000433574.1:c.1581A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu527Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

16-66803909-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66803909
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66803909
    reference: chr 16
allele count: 2
allele frequency: 9.193711501333089e-5
allele num: 21754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1576C>T
  hgvsp: ENSP00000462883.1:p.His526Tyr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1807C>T
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1450C>T
  hgvsp: ENSP00000464579.1:p.His484Tyr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1576C>T
  hgvsp: ENSP00000462977.1:p.His526Tyr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1576C>T
  hgvsp: ENSP00000463762.1:p.His526Tyr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1576C>T
  hgvsp: ENSP00000462037.1:p.His526Tyr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1450C>T
  hgvsp: ENSP00000462236.1:p.His484Tyr
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His526Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-66803928-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66803928
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66803928
    reference: chr 16
allele count: 2
allele frequency: 9.165902841429881e-5
allele num: 21820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1431A>C
  hgvsp: ENST00000313294.3:c.1431A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1788A>C
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1431A>C
  hgvsp: ENST00000415744.1:c.1431A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1557A>C
  hgvsp: ENST00000432602.1:c.1557A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1557A>C
  hgvsp: ENST00000433574.1:c.1557A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1557A>C
  hgvsp: ENST00000433154.1:c.1557A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1557A>C
  hgvsp: ENST00000558713.2:c.1557A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser519Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

16-66803961-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66803961
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66803961
    reference: chr 16
allele count: 1
allele frequency: 4.560379423568041e-5
allele num: 21928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1524T>A
  hgvsp: ENSP00000462977.1:p.Ser508Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1755T>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1524T>A
  hgvsp: ENSP00000462883.1:p.Ser508Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1398T>A
  hgvsp: ENSP00000462236.1:p.Ser466Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1524T>A
  hgvsp: ENSP00000463762.1:p.Ser508Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1398T>A
  hgvsp: ENSP00000464579.1:p.Ser466Arg
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1524T>A
  hgvsp: ENSP00000462037.1:p.Ser508Arg
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser508Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

16-66803993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66803993
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66803993
    reference: chr 16
allele count: 12
allele frequency: 5.382131324004305e-4
allele num: 22296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1366G>A
  hgvsp: ENSP00000462236.1:p.Ala456Thr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1723G>A
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1492G>A
  hgvsp: ENSP00000463762.1:p.Ala498Thr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1366G>A
  hgvsp: ENSP00000464579.1:p.Ala456Thr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1492G>A
  hgvsp: ENSP00000462037.1:p.Ala498Thr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1492G>A
  hgvsp: ENSP00000462883.1:p.Ala498Thr
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1492G>A
  hgvsp: ENSP00000462977.1:p.Ala498Thr
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala498Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-66803994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66803994
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 66803994
    reference: chr 16
allele count: 7
allele frequency: 3.1336735607485e-4
allele num: 22338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462977
  ensembl transcript: ENST00000432602
  gene symbol: CCDC79
  hgvsc: ENST00000432602.1:c.1491C>T
  hgvsp: ENST00000432602.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000463762
  ensembl transcript: ENST00000433154
  gene symbol: CCDC79
  hgvsc: ENST00000433154.1:c.1491C>T
  hgvsp: ENST00000433154.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462883
  ensembl transcript: ENST00000558713
  gene symbol: CCDC79
  hgvsc: ENST00000558713.2:c.1491C>T
  hgvsp: ENST00000558713.2:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462037
  ensembl transcript: ENST00000433574
  gene symbol: CCDC79
  hgvsc: ENST00000433574.1:c.1491C>T
  hgvsp: ENST00000433574.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000464579
  ensembl transcript: ENST00000313294
  gene symbol: CCDC79
  hgvsc: ENST00000313294.3:c.1365C>T
  hgvsp: ENST00000313294.3:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000249961
  ensembl protein: ENSP00000462236
  ensembl transcript: ENST00000415744
  gene symbol: CCDC79
  hgvsc: ENST00000415744.1:c.1365C>T
  hgvsp: ENST00000415744.1:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249961
  ensembl transcript: ENST00000561333
  gene symbol: CCDC79
  hgvsc: ENST00000561333.1:n.1722C>T
  variant of: http://identifiers.org/hgnc/26675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser497Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

11-64664868-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664868
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664868
    reference: chr 11
allele count: 1
allele frequency: 4.481893151667265e-5
allele num: 22312
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5150+16C>G
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.159C>G
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5156+16C>G
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4560+16C>G
  variant of: http://identifiers.org/hgnc/29028
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

11-64664870-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664870
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664870
    reference: chr 11
allele count: 777
allele frequency: 3.958227203260316e-2
allele num: 19630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5156+14A>C
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.157A>C
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4560+14A>C
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5150+14A>C
  variant of: http://identifiers.org/hgnc/29028
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 15077
  bin: 7.5e0
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 29678
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 11074
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 9.75e1
  variant carriers: 579
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 1.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 6838
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 23592
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 1.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.25e1
  variant carriers: 19
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

11-64664878-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664878
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664878
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 23082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.149T>C
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5156+6T>C
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4560+6T>C
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5150+6T>C
  variant of: http://identifiers.org/hgnc/29028
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 17558
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25882
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
hgvs: c.5150+6T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

11-64664886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664886
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664886
    reference: chr 11
allele count: 5
allele frequency: 2.113807389870635e-4
allele num: 23654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5154C>T
  hgvsp: ENST00000421419.2:c.5154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5148C>T
  hgvsp: ENST00000377264.3:c.5148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.141C>T
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4558C>T
  hgvsp: ENST00000418259.1:c.4558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29028
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26075
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 6.75e1
  variant carriers: 0
hgvs: c.5148C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

11-64664911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664911
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664911
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 25940
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5123A>G
  hgvsp: ENSP00000366475.3:p.Lys1708Arg
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.116A>G
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4533A>G
  hgvsp: ENSP00000413716.1:p.Lys1512Arg
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5129A>G
  hgvsp: ENSP00000410522.2:p.Lys1710Arg
  variant of: http://identifiers.org/hgnc/29028
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28618
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24804
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys1708Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

11-64664913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664913
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664913
    reference: chr 11
allele count: 1
allele frequency: 3.848522167487685e-5
allele num: 25984
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5121G>A
  hgvsp: ENST00000377264.3:c.5121G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5127G>A
  hgvsp: ENST00000421419.2:c.5127G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4531G>A
  hgvsp: ENST00000418259.1:c.4531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.114G>A
  variant of: http://identifiers.org/hgnc/29028
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16954
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Leu1707Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

11-64664918-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664918
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664918
    reference: chr 11
allele count: 1
allele frequency: 3.757138563270213e-5
allele num: 26616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.109G>A
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4526G>A
  hgvsp: ENSP00000413716.1:p.Glu1510Lys
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5122G>A
  hgvsp: ENSP00000410522.2:p.Glu1708Lys
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5116G>A
  hgvsp: ENSP00000366475.3:p.Glu1706Lys
  variant of: http://identifiers.org/hgnc/29028
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15894
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1706Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

11-64664926-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664926
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664926
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 27668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4518A>G
  hgvsp: ENSP00000413716.1:p.Asn1507Ser
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.101A>G
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5108A>G
  hgvsp: ENSP00000366475.3:p.Asn1703Ser
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5114A>G
  hgvsp: ENSP00000410522.2:p.Asn1705Ser
  variant of: http://identifiers.org/hgnc/29028
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31039
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn1703Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

11-64664930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664930
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664930
    reference: chr 11
allele count: 9
allele frequency: 3.193074576030654e-4
allele num: 28186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5110C>T
  hgvsp: ENSP00000410522.2:p.Leu1704Phe
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.97C>T
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4514C>T
  hgvsp: ENSP00000413716.1:p.Leu1506Phe
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5104C>T
  hgvsp: ENSP00000366475.3:p.Leu1702Phe
  variant of: http://identifiers.org/hgnc/29028
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31154
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 26912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1702Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

11-64664943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664943
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664943
    reference: chr 11
allele count: 1
allele frequency: 3.333555570371358e-5
allele num: 29998
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5091C>T
  hgvsp: ENST00000377264.3:c.5091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5097C>T
  hgvsp: ENST00000421419.2:c.5097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.84C>T
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4501C>T
  hgvsp: ENST00000418259.1:c.4501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29028
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3817
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12974
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Ile1697Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

11-64664945-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664945
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664945
    reference: chr 11
allele count: 1
allele frequency: 3.286446693834626e-5
allele num: 30428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5095A>G
  hgvsp: ENSP00000410522.2:p.Ile1699Val
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4499A>G
  hgvsp: ENSP00000413716.1:p.Ile1501Val
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5089A>G
  hgvsp: ENSP00000366475.3:p.Ile1697Val
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.82A>G
  variant of: http://identifiers.org/hgnc/29028
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12731
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile1697Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-64664974-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64664974
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64664974
    reference: chr 11
allele count: 1
allele frequency: 2.896535743251072e-5
allele num: 34524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000413716
  ensembl transcript: ENST00000418259
  gene symbol: ATG2A
  hgvsc: ENST00000418259.1:c.4478-8T>G
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl transcript: ENST00000472525
  gene symbol: ATG2A
  hgvsc: ENST00000472525.1:n.61-8T>G
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000410522
  ensembl transcript: ENST00000421419
  gene symbol: ATG2A
  hgvsc: ENST00000421419.2:c.5074-8T>G
  variant of: http://identifiers.org/hgnc/29028
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110046
  ensembl protein: ENSP00000366475
  ensembl transcript: ENST00000377264
  gene symbol: ATG2A
  hgvsc: ENST00000377264.3:c.5068-8T>G
  variant of: http://identifiers.org/hgnc/29028
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10853
  bin: 2.5e0
  variant carriers: 0
hgvs: c.5068-8T>G
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 1481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6216
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 3.032600454890068e-3
allele num: 7914
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 2.439024390243902e-3
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 1.646284101599247e-3
allele num: 8504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.319e1

DP
type: SiteQuality
SIO_000300: 3.24053e5

GenotypeQuality
all individuals: 1118
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6236
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
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: 34
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.175917215428034e-4
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

FS
type: SiteQuality
SIO_000300: 2.652e0

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

DP
type: SiteQuality
SIO_000300: 3.18947e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

GenotypeQuality
all individuals: 1117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1491
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.607717041800643e-3
allele num: 622
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

FS
type: SiteQuality
SIO_000300: 6.561e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.865e0

VQSLOD
type: SiteQuality
SIO_000300: -2.266e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 3.19048e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

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

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

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6224
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.23687308688486e-3
allele num: 8494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQ
type: SiteQuality
SIO_000300: 5.605e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

QD
type: SiteQuality
SIO_000300: 1.738e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 3.18719e5

MQRankSum
type: SiteQuality
SIO_000300: -2.027e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.725897920604915e-4
allele num: 2116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.52e1

MQ
type: SiteQuality
SIO_000300: 5.788e1

DP
type: SiteQuality
SIO_000300: 3.11106e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 1.106e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.65e-1

GenotypeQuality
all individuals: 1092
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.385041551246538e-4
allele num: 7220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.904e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.836e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.484e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

DP
type: SiteQuality
SIO_000300: 2.58422e5

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.292657704239917e-4
allele num: 7736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.011e1

QD
type: SiteQuality
SIO_000300: 1.617e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -1.246e0

FS
type: SiteQuality
SIO_000300: 7.048e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

DP
type: SiteQuality
SIO_000300: 2.34129e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 16
allele frequency: 8.213552361396304e-3
allele num: 1948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

DP
type: SiteQuality
SIO_000300: 2.1713e5

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

FS
type: SiteQuality
SIO_000300: 1.285e0

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

GenotypeQuality
all individuals: 695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.277465508431272e-4
allele num: 7828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1854
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.252e1

FS
type: SiteQuality
SIO_000300: 1.2698e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.686e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.99349e5

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.348e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.277139208173691e-4
allele num: 7830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 3.00176e5

GenotypeQuality
all individuals: 362
bin: 4.25e1
variant carriers: 39

GenotypeQuality
all individuals: 488
bin: 6.75e1
variant carriers: 13

GenotypeQuality
all individuals: 418
bin: 3.75e1
variant carriers: 48

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 824
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 499
bin: 3.25e1
variant carriers: 64

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 29

GenotypeQuality
all individuals: 1036
bin: 6.25e1
variant carriers: 18

GenotypeQuality
all individuals: 292
bin: 4.75e1
variant carriers: 29

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 6

South Asian
type: Population
allele count: 294
allele frequency: 5.88e-2
allele num: 5000
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 6.03448275862069e-2
allele num: 116
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 9.505703422053232e-3
allele num: 1578
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 2.608695652173913e-2
allele num: 230
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.785714285714286e-2
allele num: 336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 137
allele frequency: 2.353143249742357e-2
allele num: 5822
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 1.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

DP
type: SiteQuality
SIO_000300: 3.5722e5

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
all individuals: 418
bin: 3.75e1
variant carriers: 13

GenotypeQuality
all individuals: 362
bin: 4.25e1
variant carriers: 10

GenotypeQuality
all individuals: 795
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1738
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 297
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 824
bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 292
bin: 4.75e1
variant carriers: 13

European (Non-Finnish)
type: Population
allele count: 143
allele frequency: 2.456200618344212e-2
allele num: 5822
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 1.0e-3
allele num: 5000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 2.976190476190476e-2
allele num: 336
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 2.586206896551724e-2
allele num: 116
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.304347826086956e-2
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 6.337135614702154e-3
allele num: 1578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 1.031e0

DP
type: SiteQuality
SIO_000300: 3.5722e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 5.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
all individuals: 480
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3510
bin: 9.75e1
variant carriers: 110

GenotypeQuality
all individuals: 448
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 489
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 6.25e-3
allele num: 320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

African
type: Population
allele count: 113
allele frequency: 5.81275720164609e-2
allele num: 1944
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.27942681678608e-4
allele num: 7816
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

QD
type: SiteQuality
SIO_000300: 1.83e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 3.83628e5

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 1.943e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 473
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 649
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 5.122950819672131e-4
allele num: 1952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 8.924018357980622e-4
allele num: 7844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.832396525293817e-4
allele num: 7828
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

DP
type: SiteQuality
SIO_000300: 3.84909e5

FS
type: SiteQuality
SIO_000300: 1.454e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

QD
type: SiteQuality
SIO_000300: 4.9e0

VQSLOD
type: SiteQuality
SIO_000300: -4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3491
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 612
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.182592242194891e-4
allele num: 8456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.9907e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.303e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

FS
type: SiteQuality
SIO_000300: 2.314e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.175e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.503e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

GenotypeQuality
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 10

GenotypeQuality
all individuals: 460
bin: 7.5e0
variant carriers: 34

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 4

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 15

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 11

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 4

East Asian
type: Population
allele count: 370
allele frequency: 5.94855305466238e-1
allele num: 622
num of homozygotes: 109

Other
type: Population
allele count: 82
allele frequency: 4.315789473684211e-1
allele num: 190
num of homozygotes: 21

European (Finnish)
type: Population
allele count: 11
allele frequency: 3.235294117647059e-1
allele num: 34
num of homozygotes: 2

African
type: Population
allele count: 271
allele frequency: 1.262814538676608e-1
allele num: 2146
num of homozygotes: 21

European (Non-Finnish)
type: Population
allele count: 3214
allele frequency: 3.781176470588235e-1
allele num: 8500
num of homozygotes: 650

South Asian
type: Population
allele count: 3190
allele frequency: 4.030831437958049e-1
allele num: 7914
num of homozygotes: 649

Latino
type: Population
allele count: 154
allele frequency: 3.774509803921569e-1
allele num: 408
num of homozygotes: 25

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.18e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.814e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

DP
type: SiteQuality
SIO_000300: 7.84981e5

GenotypeQuality
all individuals: 1021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7194
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.659832246039142e-4
allele num: 2146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.18e-2

QD
type: SiteQuality
SIO_000300: 1.814e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

DP
type: SiteQuality
SIO_000300: 7.84981e5

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6549
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.826e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 2.064e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 6.8277e5

VQSLOD
type: SiteQuality
SIO_000300: -1.913e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.668e0

GenotypeQuality
all individuals: 262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.607717041800643e-3
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
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: 34
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.037e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.897e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 1.922e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 6.82833e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-1

GenotypeQuality
all individuals: 680
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6549
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.607717041800643e-3
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

DP
type: SiteQuality
SIO_000300: 6.82763e5

GenotypeQuality
all individuals: 386
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6550
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQ
type: SiteQuality
SIO_000300: 5.71e1

FS
type: SiteQuality
SIO_000300: 2.876e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 6.82657e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.655493482309125e-4
allele num: 2148
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

DP
type: SiteQuality
SIO_000300: 6.82754e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.619999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 1.711e0

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

QD
type: SiteQuality
SIO_000300: 1.718e1

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 556
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

African
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allele count: 2
allele frequency: 9.310986964618249e-4
allele num: 2148
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

QD
type: SiteQuality
SIO_000300: 1.034e1

DP
type: SiteQuality
SIO_000300: 6.82647e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 5.755e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 557
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GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.055611729019212e-4
allele num: 7912
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

QD
type: SiteQuality
SIO_000300: 8.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.131e0

FS
type: SiteQuality
SIO_000300: 5.346e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.984e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-3

DP
type: SiteQuality
SIO_000300: 6.82615e5

MQ
type: SiteQuality
SIO_000300: 5.893e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.0e-1

DP
type: SiteQuality
SIO_000300: 6.82379e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.438e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.912e1

QD
type: SiteQuality
SIO_000300: 8.16e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 316
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 2.327746741154563e-3
allele num: 2148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.25e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

FS
type: SiteQuality
SIO_000300: 2.722e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 6.82457e5

GenotypeQuality
all individuals: 328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
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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: 4738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.358695652173913e-4
allele num: 7360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

FS
type: SiteQuality
SIO_000300: 6.294e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.296e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.525e0

VQSLOD
type: SiteQuality
SIO_000300: -5.886e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 3.35324e5

QD
type: SiteQuality
SIO_000300: 1.667e1

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
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variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.358326541700625e-4
allele num: 7362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.045999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.288e0

VQSLOD
type: SiteQuality
SIO_000300: -5.494e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 3.8725e5

QD
type: SiteQuality
SIO_000300: 7.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.878048780487805e-3
allele num: 410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

DP
type: SiteQuality
SIO_000300: 3.97246e5

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: -2.932e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.179523472517103e-4
allele num: 8478
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

FS
type: SiteQuality
SIO_000300: 4.096e0

DP
type: SiteQuality
SIO_000300: 3.97932e5

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

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 410
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African
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allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.357934449422306e-4
allele num: 8482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.02e-2

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 104
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
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allele frequency: 9.310986964618249e-4
allele num: 2148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Latino
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num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.180358829084042e-4
allele num: 8472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e-1

FS
type: SiteQuality
SIO_000300: 3.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.751e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.119e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.538e1

DP
type: SiteQuality
SIO_000300: 3.9815e5

GenotypeQuality
all individuals: 585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.273560876209883e-4
allele num: 7852
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.354e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

DP
type: SiteQuality
SIO_000300: 3.96127e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

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

GenotypeQuality
all individuals: 2640
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.333333333333333e-4
allele num: 7500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.444e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.558e1

MQRankSum
type: SiteQuality
SIO_000300: -2.711e0

VQSLOD
type: SiteQuality
SIO_000300: 8.73e-1

DP
type: SiteQuality
SIO_000300: 3.86037e5

MQ
type: SiteQuality
SIO_000300: 5.096e1

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

GenotypeQuality
all individuals: 2432
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.543686322939179e-4
allele num: 6478
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

DP
type: SiteQuality
SIO_000300: 3.43838e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 88

GenotypeQuality
all individuals: 5230
bin: 9.75e1
variant carriers: 4002

GenotypeQuality
all individuals: 127
bin: 7.25e1
variant carriers: 89

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 123

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 83

GenotypeQuality
all individuals: 399
bin: 6.25e1
variant carriers: 105

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 171

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 59

Other
type: Population
allele count: 67
allele frequency: 4.294871794871795e-1
allele num: 156
num of homozygotes: 16

South Asian
type: Population
allele count: 2503
allele frequency: 4.389687828831989e-1
allele num: 5702
num of homozygotes: 511

Latino
type: Population
allele count: 147
allele frequency: 3.93048128342246e-1
allele num: 374
num of homozygotes: 24

African
type: Population
allele count: 264
allele frequency: 1.276595744680851e-1
allele num: 2068
num of homozygotes: 19

European (Finnish)
type: Population
allele count: 11
allele frequency: 3.4375e-1
allele num: 32
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 2952
allele frequency: 3.858823529411765e-1
allele num: 7650
num of homozygotes: 595

East Asian
type: Population
allele count: 361
allele frequency: 5.996677740863787e-1
allele num: 602
num of homozygotes: 107

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.65e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.09652e5

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

QD
type: SiteQuality
SIO_000300: 1.829e1

VQSLOD
type: SiteQuality
SIO_000300: 6.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

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

GenotypeQuality
all individuals: 756
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 1591
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variant carriers: 0

GenotypeQuality
all individuals: 397
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.878048780487805e-3
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1450
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.317917614354309e-4
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8718
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.354e0

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.23554e5

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 7.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

GenotypeQuality
all individuals: 757
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 6047
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variant carriers: 0

GenotypeQuality
all individuals: 416
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 1625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 5.723443223443224e-4
allele num: 8736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.86e-1

MQ
type: SiteQuality
SIO_000300: 5.844e1

QD
type: SiteQuality
SIO_000300: 1.25e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 4.264e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

GenotypeQuality
all individuals: 405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 7.5e0
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 1794
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 6091
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.655493482309125e-4
allele num: 2148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.572e0

MQ
type: SiteQuality
SIO_000300: 5.637e1

VQSLOD
type: SiteQuality
SIO_000300: -3.25e-1

QD
type: SiteQuality
SIO_000300: 6.96e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.26461e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6090
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 1793
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variant carriers: 1

GenotypeQuality
all individuals: 406
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.128e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

DP
type: SiteQuality
SIO_000300: 4.26458e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

VQSLOD
type: SiteQuality
SIO_000300: -3.473e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1792
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 265
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.324e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.572e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.709e1

DP
type: SiteQuality
SIO_000300: 4.26063e5

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 6063
bin: 6.25e1
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GenotypeQuality
all individuals: 1619
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GenotypeQuality
all individuals: 1791
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 414
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GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 3.789e0

QD
type: SiteQuality
SIO_000300: 1.44e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.556e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

DP
type: SiteQuality
SIO_000300: 4.25577e5

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

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

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.439024390243902e-3
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.238e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 4.21366e5

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 4.958e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 222
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.195786864931846e-4
allele num: 1614
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 6.062e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.755e1

DP
type: SiteQuality
SIO_000300: 3.70612e5

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.008e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 9.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.497e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.71e-2

DP
type: SiteQuality
SIO_000300: 4.80576e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

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

GenotypeQuality
all individuals: 804
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 631
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -2.71e-2

DP
type: SiteQuality
SIO_000300: 4.80576e5

FS
type: SiteQuality
SIO_000300: 1.008e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 9.0e0

GenotypeQuality
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3603
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variant carriers: 0

GenotypeQuality
all individuals: 1203
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variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.17813383600377e-4
allele num: 8488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

FS
type: SiteQuality
SIO_000300: 2.006e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.799e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.097e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

DP
type: SiteQuality
SIO_000300: 4.80445e5

QD
type: SiteQuality
SIO_000300: 1.108e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.083e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 27
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
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: 34
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527805864509606e-4
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.132e1

VQSLOD
type: SiteQuality
SIO_000300: -3.202e-1

DP
type: SiteQuality
SIO_000300: 4.80366e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

FS
type: SiteQuality
SIO_000300: 8.119999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.179801793298726e-4
allele num: 8476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

QD
type: SiteQuality
SIO_000300: 1.475e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.13e0

DP
type: SiteQuality
SIO_000300: 4.79598e5

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.271940981938438e-4
allele num: 7862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.060670343657191e-4
allele num: 9428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.971e0

DP
type: SiteQuality
SIO_000300: 5.69921e5

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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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: 178
bin: 9.25e1
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GenotypeQuality
all individuals: 1372
bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 6.993006993006993e-3
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.512e1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 2.04583e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.320655044902272e-4
allele num: 7572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.326e0

DP
type: SiteQuality
SIO_000300: 2.76707e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

QD
type: SiteQuality
SIO_000300: 2.366e1

GenotypeQuality
all individuals: 1028
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6607
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 195
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.892367906066536e-4
allele num: 2044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7024
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 2.96133e5

VQSLOD
type: SiteQuality
SIO_000300: -2.619e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e0

FS
type: SiteQuality
SIO_000300: 1.23e1

QD
type: SiteQuality
SIO_000300: 1.761e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

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

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

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8742
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.1387e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1017
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7685
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.276867030965392e-4
allele num: 8784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.1484e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

FS
type: SiteQuality
SIO_000300: 4.357e0

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.09e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 959
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 9.225092250922509e-4
allele num: 2168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 3.1602e5

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
all individuals: 604
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.120322652924042e-4
allele num: 8926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

DP
type: SiteQuality
SIO_000300: 3.17958e5

FS
type: SiteQuality
SIO_000300: 3.886e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

QD
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.083658430862592e-4
allele num: 9228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.389941875157948e-3
allele num: 7914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.123e1

DP
type: SiteQuality
SIO_000300: 3.22763e5

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.126e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 220
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 8.888888888888889e-4
allele num: 2250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 5.408913890090869e-4
allele num: 9244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

DP
type: SiteQuality
SIO_000300: 3.23023e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.254390366281987e-4
allele num: 7972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.26e-2

DP
type: SiteQuality
SIO_000300: 5.95874e5

FS
type: SiteQuality
SIO_000300: 1.826e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.143e0

QD
type: SiteQuality
SIO_000300: 1.024e1

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 13

GenotypeQuality
all individuals: 794
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 492
bin: 9.25e1
variant carriers: 24

European (Non-Finnish)
type: Population
allele count: 536
allele frequency: 6.638593014614813e-2
allele num: 8074
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.643192488262911e-2
allele num: 426
num of homozygotes: 0

African
type: Population
allele count: 181
allele frequency: 7.748287671232877e-2
allele num: 2336
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 4.945054945054945e-2
allele num: 182
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.394523326572008e-3
allele num: 7888
num of homozygotes: 0

East Asian
type: Population
allele count: 31
allele frequency: 4.572271386430678e-2
allele num: 678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.347826086956522e-2
allele num: 46
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.39e-2

FS
type: SiteQuality
SIO_000300: 2.21346e2

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.87e-1

DP
type: SiteQuality
SIO_000300: 5.97694e5

VQSLOD
type: SiteQuality
SIO_000300: -2.202e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.02e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 6.08362e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.84e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

QD
type: SiteQuality
SIO_000300: 2.15e1

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10492
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.234152652005175e-4
allele num: 3092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.9800796812749e-4
allele num: 8032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 6.3081e5

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.72e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

FS
type: SiteQuality
SIO_000300: 1.222e0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 6.25e1
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GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.367e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.25e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.88247e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.851e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 770
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.350033400133601e-5
allele num: 11976
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.843e1

DP
type: SiteQuality
SIO_000300: 6.90944e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.278e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.27e-2

QD
type: SiteQuality
SIO_000300: 2.111e1

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.093234056328909e-5
allele num: 12356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.01184e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

QD
type: SiteQuality
SIO_000300: 1.505e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 772
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12992
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.83e-2

QD
type: SiteQuality
SIO_000300: 3.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.803e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.12863e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.201345506967804e-4
allele num: 8324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1566
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African
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allele count: 8
allele frequency: 2.324230098779779e-3
allele num: 3442
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 7.15758e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

FS
type: SiteQuality
SIO_000300: 1.742e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.173e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.88041832943443e-5
allele num: 14534
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1676
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8468
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.705e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.81e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14804
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.791736460078169e-4
allele num: 3582
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 482
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Latino
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allele frequency: 0.0e0
allele num: 1074
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Other
type: Population
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allele frequency: 0.0e0
allele num: 260
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East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
allele num: 8526
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.781e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.48e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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