18-13068922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068922
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068922
    reference: chr 18
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3469G>A
  hgvsp: ENSP00000389190.2:p.Val1157Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.537G>A
  hgvsp: ENSP00000467297.1:p.Val180Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4410G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3694G>A
  hgvsp: ENSP00000423147.1:p.Val1232Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3510G>A
  hgvsp: ENSP00000467038.1:p.Val1171Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4894G>A
  hgvsp: ENSP00000427550.1:p.Val1632Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3106G>A
  hgvsp: ENSP00000317156.8:p.Val1036Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.80G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val1632Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

18-13068928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068928
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068928
    reference: chr 18
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.543A>G
  hgvsp: ENSP00000467297.1:p.Arg182Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.86A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4416A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4900A>G
  hgvsp: ENSP00000427550.1:p.Arg1634Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3475A>G
  hgvsp: ENSP00000389190.2:p.Arg1159Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3516A>G
  hgvsp: ENSP00000467038.1:p.Arg1173Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3112A>G
  hgvsp: ENSP00000317156.8:p.Arg1038Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3700A>G
  hgvsp: ENSP00000423147.1:p.Arg1234Gly
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg1634Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-13068930-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068930
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068930
    reference: chr 18
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.545A>C
  hgvsp: ENSP00000467297.1:p.Arg182Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3702A>C
  hgvsp: ENSP00000423147.1:p.Arg1234Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.88A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3518A>C
  hgvsp: ENSP00000467038.1:p.Arg1173Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4902A>C
  hgvsp: ENSP00000427550.1:p.Arg1634Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4418A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3477A>C
  hgvsp: ENSP00000389190.2:p.Arg1159Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3114A>C
  hgvsp: ENSP00000317156.8:p.Arg1038Ser
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1634Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

18-13068944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068944
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068944
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3532G>A
  hgvsp: ENSP00000467038.1:p.Arg1178Gln
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3128G>A
  hgvsp: ENSP00000317156.8:p.Arg1043Gln
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.559G>A
  hgvsp: ENSP00000467297.1:p.Arg187Gln
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3491G>A
  hgvsp: ENSP00000389190.2:p.Arg1164Gln
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3716G>A
  hgvsp: ENSP00000423147.1:p.Arg1239Gln
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.102G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4432G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4916G>A
  hgvsp: ENSP00000427550.1:p.Arg1639Gln
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12901
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1639Gln
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

18-13068980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068980
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068980
    reference: chr 18
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.138G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3752G>A
  hgvsp: ENSP00000423147.1:p.Arg1251Lys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3527G>A
  hgvsp: ENSP00000389190.2:p.Arg1176Lys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4468G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3568G>A
  hgvsp: ENSP00000467038.1:p.Arg1190Lys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4952G>A
  hgvsp: ENSP00000427550.1:p.Arg1651Lys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3164G>A
  hgvsp: ENSP00000317156.8:p.Arg1055Lys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.595G>A
  hgvsp: ENSP00000467297.1:p.Arg199Lys
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1651Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

18-13068982-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068982
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068982
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4954G>C
  hgvsp: ENSP00000427550.1:p.Asp1652His
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3529G>C
  hgvsp: ENSP00000389190.2:p.Asp1177His
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.597G>C
  hgvsp: ENSP00000467297.1:p.Asp200His
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.140G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3754G>C
  hgvsp: ENSP00000423147.1:p.Asp1252His
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4470G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3166G>C
  hgvsp: ENSP00000317156.8:p.Asp1056His
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3570G>C
  hgvsp: ENSP00000467038.1:p.Asp1191His
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp1652His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-13068984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068984
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068984
    reference: chr 18
allele count: 7
allele frequency: 5.766062602965403e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3756C>T
  hgvsp: ENST00000510237.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3572C>T
  hgvsp: ENST00000511820.2:c.3572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4472C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4956C>T
  hgvsp: ENST00000506447.1:c.4956C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.599C>T
  hgvsp: ENST00000589993.1:c.599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3531C>T
  hgvsp: ENST00000430049.2:c.3531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3168C>T
  hgvsp: ENST00000325971.8:c.3168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.142C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12901
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp1652Asp
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

18-13068988-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068988
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068988
    reference: chr 18
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4476C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3576C>G
  hgvsp: ENSP00000467038.1:p.Gln1193Glu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3535C>G
  hgvsp: ENSP00000389190.2:p.Gln1179Glu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4960C>G
  hgvsp: ENSP00000427550.1:p.Gln1654Glu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.146C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.603C>G
  hgvsp: ENSP00000467297.1:p.Gln202Glu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3760C>G
  hgvsp: ENSP00000423147.1:p.Gln1254Glu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3172C>G
  hgvsp: ENSP00000317156.8:p.Gln1058Glu
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln1654Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

18-13068989-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068989
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068989
    reference: chr 18
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3761A>G
  hgvsp: ENSP00000423147.1:p.Gln1254Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3536A>G
  hgvsp: ENSP00000389190.2:p.Gln1179Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.604A>G
  hgvsp: ENSP00000467297.1:p.Gln202Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.147A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4961A>G
  hgvsp: ENSP00000427550.1:p.Gln1654Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3173A>G
  hgvsp: ENSP00000317156.8:p.Gln1058Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3577A>G
  hgvsp: ENSP00000467038.1:p.Gln1193Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4477A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7781
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln1654Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

18-13068991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068991
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068991
    reference: chr 18
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3174+1G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3537+1G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3762+1G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.148+1G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4478+1G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.605+1G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3578+1G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4962+1G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 8.75e1
  variant carriers: 0
hgvs: c.4962+1G>A
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

18-13068993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13068993
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13068993
    reference: chr 18
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3537+3A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4962+3A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3174+3A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.148+3A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.605+3A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3578+3A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3762+3A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4478+3A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: c.4962+3A>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

18-13069005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069005
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069005
    reference: chr 18
allele count: 15
allele frequency: 1.235605199426679e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3537+15C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4962+15C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4478+15C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3762+15C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3578+15C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.605+15C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3174+15C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.148+15C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

18-13069014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069014
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069014
    reference: chr 18
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3537+24C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3762+24C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4962+24C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.605+24C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3578+24C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3174+24C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4478+24C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.148+24C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-13069015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069015
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069015
    reference: chr 18
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3174+25G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3537+25G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.605+25G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4478+25G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3762+25G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4962+25G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.148+25G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3578+25G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

18-13069015-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069015
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069015
    reference: chr 18
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.148+25G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.605+25G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4478+25G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3762+25G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3174+25G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3578+25G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4962+25G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3537+25G>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22479
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

18-13069027-A-ATTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069027
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069031
    reference: chr 18
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: ATTTC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.148+39_148+40insTCTT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.605+39_605+40insTCTT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4478+39_*4478+40insTCTT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3537+39_3537+40insTCTT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4962+39_4962+40insTCTT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3762+39_3762+40insTCTT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3174+39_3174+40insTCTT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3578+39_3578+40insTCTT
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

18-13069032-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069032
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069031
    reference: chr 18
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3578+43delG
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.605+43delG
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4478+43delG
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.148+43delG
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4962+43delG
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3762+43delG
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3537+43delG
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3174+43delG
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 16880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: TG
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

18-13069034-C-CAGTGTTTTATACTTTTCATTATAGAGGTCTTTTACTTCTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069034
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069074
    reference: chr 18
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: CAGTGTTTTATACTTTTCATTATAGAGGTCTTTTACTTCTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4981
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/18-13069037-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069037
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069037
    reference: chr 18
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3762+47A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.605+47A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4478+47A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3578+47A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3174+47A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4962+47A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3537+47A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.148+47A>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

18-13069056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069056
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069056
    reference: chr 18
allele count: 456
allele frequency: 3.756425464610518e-3
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.606-32C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.149-32C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3175-32C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3538-32C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4479-32C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3763-32C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4963-32C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3579-32C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 16855
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14444
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 11
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

18-13069064-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069064
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069064
    reference: chr 18
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4963-24T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3763-24T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4479-24T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.606-24T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3579-24T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3175-24T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3538-24T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.149-24T>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-13069068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069068
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069068
    reference: chr 18
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3175-20T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.149-20T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.606-20T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3763-20T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4479-20T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4963-20T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3538-20T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3579-20T>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-13069069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069069
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069069
    reference: chr 18
allele count: 20
allele frequency: 1.647446457990115e-4
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.149-19G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4963-19G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3538-19G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3579-19G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3763-19G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3175-19G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4479-19G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.606-19G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14554
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

18-13069071-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069071
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069071
    reference: chr 18
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.606-17C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.149-17C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4479-17C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3579-17C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3175-17C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4963-17C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3763-17C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3538-17C>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12727
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

18-13069074-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069074
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069074
    reference: chr 18
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.606-14G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4963-14G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3763-14G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3175-14G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4479-14G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3579-14G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.149-14G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3538-14G>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

18-13069088-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069088
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069088
    reference: chr 18
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3538A>G
  hgvsp: ENSP00000389190.2:p.Thr1180Ala
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3579A>G
  hgvsp: ENSP00000467038.1:p.Thr1194Ala
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.606A>G
  hgvsp: ENSP00000467297.1:p.Thr203Ala
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.149A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3763A>G
  hgvsp: ENSP00000423147.1:p.Thr1255Ala
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3175A>G
  hgvsp: ENSP00000317156.8:p.Thr1059Ala
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4479A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4963A>G
  hgvsp: ENSP00000427550.1:p.Thr1655Ala
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1655Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

18-13069089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069089
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069089
    reference: chr 18
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3539C>T
  hgvsp: ENSP00000389190.2:p.Thr1180Met
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3764C>T
  hgvsp: ENSP00000423147.1:p.Thr1255Met
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.607C>T
  hgvsp: ENSP00000467297.1:p.Thr203Met
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3580C>T
  hgvsp: ENSP00000467038.1:p.Thr1194Met
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4480C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4964C>T
  hgvsp: ENSP00000427550.1:p.Thr1655Met
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.150C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3176C>T
  hgvsp: ENSP00000317156.8:p.Thr1059Met
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12721
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr1655Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

18-13069090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069090
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069090
    reference: chr 18
allele count: 17
allele frequency: 1.400329489291598e-4
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.151G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.608G>A
  hgvsp: ENST00000589993.1:c.608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3540G>A
  hgvsp: ENST00000430049.2:c.3540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3177G>A
  hgvsp: ENST00000325971.8:c.3177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3581G>A
  hgvsp: ENST00000511820.2:c.3581G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4481G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3765G>A
  hgvsp: ENST00000510237.1:c.3765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4965G>A
  hgvsp: ENST00000506447.1:c.4965G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: c.4965G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

18-13069095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069095
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069095
    reference: chr 18
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3586A>G
  hgvsp: ENSP00000467038.1:p.His1196Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4486A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4970A>G
  hgvsp: ENSP00000427550.1:p.His1657Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3770A>G
  hgvsp: ENSP00000423147.1:p.His1257Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3545A>G
  hgvsp: ENSP00000389190.2:p.His1182Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3182A>G
  hgvsp: ENSP00000317156.8:p.His1061Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.613A>G
  hgvsp: ENSP00000467297.1:p.His205Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.156A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His1657Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

18-13069104-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069104
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069104
    reference: chr 18
allele count: 9
allele frequency: 7.413386929375134e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3595C>G
  hgvsp: ENSP00000467038.1:p.Ala1199Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3554C>G
  hgvsp: ENSP00000389190.2:p.Ala1185Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4979C>G
  hgvsp: ENSP00000427550.1:p.Ala1660Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3191C>G
  hgvsp: ENSP00000317156.8:p.Ala1064Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.165C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.622C>G
  hgvsp: ENSP00000467297.1:p.Ala208Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3779C>G
  hgvsp: ENSP00000423147.1:p.Ala1260Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4495C>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22718
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1660Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

18-13069107-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069107
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069107
    reference: chr 18
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4982A>G
  hgvsp: ENSP00000427550.1:p.Lys1661Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.168A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.625A>G
  hgvsp: ENSP00000467297.1:p.Lys209Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3557A>G
  hgvsp: ENSP00000389190.2:p.Lys1186Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3782A>G
  hgvsp: ENSP00000423147.1:p.Lys1261Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3598A>G
  hgvsp: ENSP00000467038.1:p.Lys1200Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4498A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3194A>G
  hgvsp: ENSP00000317156.8:p.Lys1065Arg
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys1661Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

18-13069109-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069109
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069109
    reference: chr 18
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4984G>C
  hgvsp: ENSP00000427550.1:p.Val1662Leu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3196G>C
  hgvsp: ENSP00000317156.8:p.Val1066Leu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3784G>C
  hgvsp: ENSP00000423147.1:p.Val1262Leu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3559G>C
  hgvsp: ENSP00000389190.2:p.Val1187Leu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4500G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3600G>C
  hgvsp: ENSP00000467038.1:p.Val1201Leu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.627G>C
  hgvsp: ENSP00000467297.1:p.Val210Leu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.170G>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1662Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

18-13069114-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069114
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069114
    reference: chr 18
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.175T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3564T>A
  hgvsp: ENST00000430049.2:c.3564T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.632T>A
  hgvsp: ENST00000589993.1:c.632T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3201T>A
  hgvsp: ENST00000325971.8:c.3201T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.4989T>A
  hgvsp: ENST00000506447.1:c.4989T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3605T>A
  hgvsp: ENST00000511820.2:c.3605T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4505T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3789T>A
  hgvsp: ENST00000510237.1:c.3789T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1663Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

18-13069130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069130
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069130
    reference: chr 18
allele count: 4
allele frequency: 3.29614186594591e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3217C>T
  hgvsp: ENSP00000317156.8:p.His1073Tyr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3580C>T
  hgvsp: ENSP00000389190.2:p.His1194Tyr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.648C>T
  hgvsp: ENSP00000467297.1:p.His217Tyr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5005C>T
  hgvsp: ENSP00000427550.1:p.His1669Tyr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3621C>T
  hgvsp: ENSP00000467038.1:p.His1208Tyr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4521C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.191C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3805C>T
  hgvsp: ENSP00000423147.1:p.His1269Tyr
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17033
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12707
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His1669Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

18-13069131-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069131
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069131
    reference: chr 18
allele count: 135
allele frequency: 1.112484548825711e-3
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5006A>G
  hgvsp: ENSP00000427550.1:p.His1669Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.192A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3218A>G
  hgvsp: ENSP00000317156.8:p.His1073Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.649A>G
  hgvsp: ENSP00000467297.1:p.His217Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3806A>G
  hgvsp: ENSP00000423147.1:p.His1269Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3581A>G
  hgvsp: ENSP00000389190.2:p.His1194Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4522A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3622A>G
  hgvsp: ENSP00000467038.1:p.His1208Arg
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4975
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His1669Arg
num of homozygotes: 3
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-13069135-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069135
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069135
    reference: chr 18
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3585A>C
  hgvsp: ENSP00000389190.2:p.Leu1195Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3626A>C
  hgvsp: ENSP00000467038.1:p.Leu1209Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5010A>C
  hgvsp: ENSP00000427550.1:p.Leu1670Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3222A>C
  hgvsp: ENSP00000317156.8:p.Leu1074Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.653A>C
  hgvsp: ENSP00000467297.1:p.Leu218Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4526A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3810A>C
  hgvsp: ENSP00000423147.1:p.Leu1270Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.196A>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12650
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1670Phe
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-13069136-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069136
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069136
    reference: chr 18
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.654C>A
  hgvsp: ENSP00000467297.1:p.Pro219Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3586C>A
  hgvsp: ENSP00000389190.2:p.Pro1196Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.197C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3811C>A
  hgvsp: ENSP00000423147.1:p.Pro1271Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3627C>A
  hgvsp: ENSP00000467038.1:p.Pro1210Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5011C>A
  hgvsp: ENSP00000427550.1:p.Pro1671Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4527C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3223C>A
  hgvsp: ENSP00000317156.8:p.Pro1075Thr
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7805
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1671Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-13069149-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069149
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069149
    reference: chr 18
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3824C>A
  hgvsp: ENSP00000423147.1:p.Ala1275Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5024C>A
  hgvsp: ENSP00000427550.1:p.Ala1675Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3236C>A
  hgvsp: ENSP00000317156.8:p.Ala1079Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.667C>A
  hgvsp: ENSP00000467297.1:p.Ala223Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3599C>A
  hgvsp: ENSP00000389190.2:p.Ala1200Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4540C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3640C>A
  hgvsp: ENSP00000467038.1:p.Ala1214Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.210C>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12646
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7780
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1675Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

18-13069162-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069162
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069162
    reference: chr 18
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.680A>T
  hgvsp: ENSP00000467297.1:p.Glu227Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3249A>T
  hgvsp: ENSP00000317156.8:p.Glu1083Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3653A>T
  hgvsp: ENSP00000467038.1:p.Glu1218Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3612A>T
  hgvsp: ENSP00000389190.2:p.Glu1204Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3837A>T
  hgvsp: ENSP00000423147.1:p.Glu1279Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5037A>T
  hgvsp: ENSP00000427550.1:p.Glu1679Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.223A>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4553A>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu1679Asp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-13069167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069167
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069167
    reference: chr 18
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3617A>G
  hgvsp: ENSP00000389190.2:p.Tyr1206Cys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3254A>G
  hgvsp: ENSP00000317156.8:p.Tyr1085Cys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4558A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5042A>G
  hgvsp: ENSP00000427550.1:p.Tyr1681Cys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3658A>G
  hgvsp: ENSP00000467038.1:p.Tyr1220Cys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3842A>G
  hgvsp: ENSP00000423147.1:p.Tyr1281Cys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.228A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.685A>G
  hgvsp: ENSP00000467297.1:p.Tyr229Cys
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr1681Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

18-13069173-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069173
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069173
    reference: chr 18
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3260A>G
  hgvsp: ENSP00000317156.8:p.Asp1087Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.691A>G
  hgvsp: ENSP00000467297.1:p.Asp231Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5048A>G
  hgvsp: ENSP00000427550.1:p.Asp1683Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3623A>G
  hgvsp: ENSP00000389190.2:p.Asp1208Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3664A>G
  hgvsp: ENSP00000467038.1:p.Asp1222Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4564A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3848A>G
  hgvsp: ENSP00000423147.1:p.Asp1283Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.234A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp1683Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

18-13069174-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069174
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069174
    reference: chr 18
allele count: 2
allele frequency: 1.65508109897385e-5
allele num: 120840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.692T>C
  hgvsp: ENST00000589993.1:c.692T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3849T>C
  hgvsp: ENST00000510237.1:c.3849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3665T>C
  hgvsp: ENST00000511820.2:c.3665T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.235T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4565T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3261T>C
  hgvsp: ENST00000325971.8:c.3261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5049T>C
  hgvsp: ENST00000506447.1:c.5049T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3624T>C
  hgvsp: ENST00000430049.2:c.3624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp1683Asp
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: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/18-13069187-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069187
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069187
    reference: chr 18
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.241+7A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5055+7A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3855+7A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4571+7A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3267+7A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.698+7A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3671+7A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3630+7A>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
hgvs: c.5055+7A>C
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

18-13069190-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069190
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069189
    reference: chr 18
allele count: 19
allele frequency: 1.577051411876027e-4
allele num: 120478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4571+12delC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.698+12delC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.241+12delC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3630+12delC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3671+12delC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3855+12delC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3267+12delC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5055+12delC
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16587
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: TC
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

18-13069193-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069193
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069193
    reference: chr 18
allele count: 3
allele frequency: 2.490949549968448e-5
allele num: 120436
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5055+13A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.698+13A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3630+13A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3855+13A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.241+13A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3267+13A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4571+13A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3671+13A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16544
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

18-13069204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069204
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069204
    reference: chr 18
allele count: 1
allele frequency: 8.322652595835345e-6
allele num: 120154
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5055+24A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3855+24A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3671+24A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.698+24A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3630+24A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4571+24A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3267+24A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.241+24A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14153
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12632
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-13069208-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069208
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069208
    reference: chr 18
allele count: 1
allele frequency: 8.331389342486753e-6
allele num: 120028
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5055+28G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4571+28G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3671+28G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.698+28G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3267+28G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3855+28G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.241+28G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3630+28G>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

18-13069221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069221
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069221
    reference: chr 18
allele count: 5885
allele frequency: 4.929884229396686e-2
allele num: 119374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4571+41C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.698+41C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3855+41C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3630+41C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3267+41C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.241+41C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5055+41C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3671+41C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 4.25e1
  variant carriers: 586
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 3.25e1
  variant carriers: 853
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.75e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 4.75e1
  variant carriers: 432
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 3.75e1
  variant carriers: 785
genotype depth: GenotypeDepth
  all individuals: 12813
  bin: 2.75e1
  variant carriers: 746
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 1.75e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 1.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 2.25e1
  variant carriers: 468
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.75e1
  variant carriers: 192
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6035
  bin: 6.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 7.75e1
  variant carriers: 13
num of homozygotes: 204
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD

18-13069225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069225
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069225
    reference: chr 18
allele count: 1
allele frequency: 8.408166010829718e-6
allele num: 118932
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5055+45C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3855+45C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.241+45C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.698+45C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3267+45C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3671+45C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4571+45C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3630+45C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

18-13069226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069226
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069226
    reference: chr 18
allele count: 1
allele frequency: 8.401666890711118e-6
allele num: 119024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3267+46T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3855+46T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3671+46T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.698+46T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4571+46T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3630+46T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5055+46T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.241+46T>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

18-13069688-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069688
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069688
    reference: chr 18
allele count: 4
allele frequency: 3.318896135145451e-5
allele num: 120522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-49T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-49T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-49T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-49T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-49T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-49T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-49T>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-49T>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-13069690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069690
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069690
    reference: chr 18
allele count: 2
allele frequency: 1.660826094899603e-5
allele num: 120422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-47C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

18-13069692-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069692
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069692
    reference: chr 18
allele count: 2
allele frequency: 1.659145208388638e-5
allele num: 120544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-45T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-45T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-45T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-45T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-45T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-45T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-45T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-45T>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

18-13069695-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069695
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069695
    reference: chr 18
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-42T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-42T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-42T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-42T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-42T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-42T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-42T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-42T>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6948
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

18-13069696-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069696
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069696
    reference: chr 18
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-41T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-41T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-41T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-41T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-41T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-41T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-41T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-41T>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

18-13069703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069703
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069703
    reference: chr 18
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-34C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-34C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-34C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-34C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-34C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-34C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-34C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-34C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-13069704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069704
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069704
    reference: chr 18
allele count: 2
allele frequency: 1.657632569164719e-5
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-33G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-33G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-33G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-33G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-33G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-33G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-33G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-33G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44445
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

18-13069705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069705
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069705
    reference: chr 18
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-32G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-32G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-32G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-32G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-32G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-32G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-32G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-32G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

18-13069708-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069708
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069708
    reference: chr 18
allele count: 32
allele frequency: 2.649708532061473e-4
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-29T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-29T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-29T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-29T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-29T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-29T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-29T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-29T>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 2
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

18-13069711-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069711
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069711
    reference: chr 18
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-26A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-26A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-26A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-26A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-26A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-26A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-26A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-26A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

18-13069712-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069712
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069712
    reference: chr 18
allele count: 21
allele frequency: 1.737921445950643e-4
allele num: 120834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-25A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-25A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-25A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-25A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-25A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-25A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-25A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-25A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-13069727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069727
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069727
    reference: chr 18
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856-10C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8413
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-13069737-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069737
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069737
    reference: chr 18
allele count: 20
allele frequency: 1.65000165000165e-4
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.242G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3856G>A
  hgvsp: ENSP00000423147.1:p.Val1286Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4572G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.699G>A
  hgvsp: ENSP00000467297.1:p.Val234Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3672G>A
  hgvsp: ENSP00000467038.1:p.Val1225Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3268G>A
  hgvsp: ENSP00000317156.8:p.Val1090Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5056G>A
  hgvsp: ENSP00000427550.1:p.Val1686Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3631G>A
  hgvsp: ENSP00000389190.2:p.Val1211Ile
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val1686Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

18-13069741-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069741
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069741
    reference: chr 18
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3272C>G
  hgvsp: ENSP00000317156.8:p.Pro1091Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3635C>G
  hgvsp: ENSP00000389190.2:p.Pro1212Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5060C>G
  hgvsp: ENSP00000427550.1:p.Pro1687Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3860C>G
  hgvsp: ENSP00000423147.1:p.Pro1287Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4576C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3676C>G
  hgvsp: ENSP00000467038.1:p.Pro1226Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.703C>G
  hgvsp: ENSP00000467297.1:p.Pro235Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.246C>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1687Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

18-13069753-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069753
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069753
    reference: chr 18
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3872G>T
  hgvsp: ENSP00000423147.1:p.Ser1291Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3688G>T
  hgvsp: ENSP00000467038.1:p.Ser1230Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3284G>T
  hgvsp: ENSP00000317156.8:p.Ser1095Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4588G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3647G>T
  hgvsp: ENSP00000389190.2:p.Ser1216Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5072G>T
  hgvsp: ENSP00000427550.1:p.Ser1691Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.258G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.715G>T
  hgvsp: ENSP00000467297.1:p.Ser239Ile
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1691Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

18-13069755-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069755
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069755
    reference: chr 18
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5074C>G
  hgvsp: ENSP00000427550.1:p.His1692Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3690C>G
  hgvsp: ENSP00000467038.1:p.His1231Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3649C>G
  hgvsp: ENSP00000389190.2:p.His1217Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3286C>G
  hgvsp: ENSP00000317156.8:p.His1096Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.260C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.717C>G
  hgvsp: ENSP00000467297.1:p.His240Asp
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4590C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3874C>G
  hgvsp: ENSP00000423147.1:p.His1292Asp
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His1692Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS

18-13069768-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069768
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069768
    reference: chr 18
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3662A>T
  hgvsp: ENSP00000389190.2:p.Asp1221Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5087A>T
  hgvsp: ENSP00000427550.1:p.Asp1696Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3703A>T
  hgvsp: ENSP00000467038.1:p.Asp1235Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.273A>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.730A>T
  hgvsp: ENSP00000467297.1:p.Asp244Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3887A>T
  hgvsp: ENSP00000423147.1:p.Asp1296Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4603A>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3299A>T
  hgvsp: ENSP00000317156.8:p.Asp1100Val
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp1696Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

18-13069778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069778
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069778
    reference: chr 18
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3713T>C
  hgvsp: ENST00000511820.2:c.3713T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4613T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3309T>C
  hgvsp: ENST00000325971.8:c.3309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.740T>C
  hgvsp: ENST00000589993.1:c.740T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3897T>C
  hgvsp: ENST00000510237.1:c.3897T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5097T>C
  hgvsp: ENST00000506447.1:c.5097T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.283T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3672T>C
  hgvsp: ENST00000430049.2:c.3672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn1699Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

18-13069781-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069781
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069781
    reference: chr 18
allele count: 4
allele frequency: 3.295272930980509e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3900A>G
  hgvsp: ENST00000510237.1:c.3900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4616A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3675A>G
  hgvsp: ENST00000430049.2:c.3675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.743A>G
  hgvsp: ENST00000589993.1:c.743A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3716A>G
  hgvsp: ENST00000511820.2:c.3716A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5100A>G
  hgvsp: ENST00000506447.1:c.5100A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.286A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3312A>G
  hgvsp: ENST00000325971.8:c.3312A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1700Leu
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: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

18-13069782-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069782
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069782
    reference: chr 18
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3313C>G
  hgvsp: ENSP00000317156.8:p.Leu1105Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4617C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.287C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5101C>G
  hgvsp: ENSP00000427550.1:p.Leu1701Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3717C>G
  hgvsp: ENSP00000467038.1:p.Leu1240Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3676C>G
  hgvsp: ENSP00000389190.2:p.Leu1226Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.744C>G
  hgvsp: ENSP00000467297.1:p.Leu249Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3901C>G
  hgvsp: ENSP00000423147.1:p.Leu1301Val
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21473
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1701Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

18-13069782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13069782
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13069782
    reference: chr 18
allele count: 81283
allele frequency: 6.697345220242902e-1
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.744C>T
  hgvsp: ENSP00000467297.1:p.Leu249Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.3717C>T
  hgvsp: ENSP00000467038.1:p.Leu1240Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.3313C>T
  hgvsp: ENSP00000317156.8:p.Leu1105Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.3901C>T
  hgvsp: ENSP00000423147.1:p.Leu1301Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000507254
  gene symbol: CEP192
  hgvsc: ENST00000507254.2:n.287C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*4617C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.3676C>T
  hgvsp: ENSP00000389190.2:p.Leu1226Phe
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.5101C>T
  hgvsp: ENSP00000427550.1:p.Leu1701Phe
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 6.75e1
  variant carriers: 3339
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 7.25e1
  variant carriers: 3586
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 8.25e1
  variant carriers: 3938
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 6.25e1
  variant carriers: 2776
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 310
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 8.75e1
  variant carriers: 3877
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 5.75e1
  variant carriers: 2300
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 813
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 7.75e1
  variant carriers: 3793
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 494
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 5.25e1
  variant carriers: 1793
hgvs: p.Leu1701Phe
num of homozygotes: 27699
reference allele: C

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

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

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

GenotypeQuality
all individuals: 3342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4992
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4162
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 2.086062e6

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

GenotypeQuality
all individuals: 3343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4163
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7791
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12901
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4992
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 2.086038e6

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12901
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7794
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4992
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22494
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3000
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.086043e6

QD
type: SiteQuality
SIO_000300: 1.365e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e0

FS
type: SiteQuality
SIO_000300: 1.473e0

MQRankSum
type: SiteQuality
SIO_000300: -1.158e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3341
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7797
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22481
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.798e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

DP
type: SiteQuality
SIO_000300: 2.086122e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

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

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4160
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12898
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22471
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7791
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 2.085913e6

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 4.799e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.287e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.606e0

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

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7790
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12897
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22483
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.491e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.085904e6

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7789
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 22478
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4157
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048940570024275e-4
allele num: 66734
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.417e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 5.55e-1

DP
type: SiteQuality
SIO_000300: 2.086321e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.697e0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12895
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 22467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7784
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

DP
type: SiteQuality
SIO_000300: 2.085915e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.09e-1

FS
type: SiteQuality
SIO_000300: 2.919e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

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

GenotypeQuality
all individuals: 22475
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4989
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12893
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

DP
type: SiteQuality
SIO_000300: 2.08581e6

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

FS
type: SiteQuality
SIO_000300: 2.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.377e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.36e-1

GenotypeQuality
all individuals: 4987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12893
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.08581e6

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 9.94e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 12893
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4987
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22489
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.085832e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

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

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

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22472
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12892
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 2001
bin: 8.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 3335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7776
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 15
allele frequency: 1.733302519066328e-3
allele num: 8654
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.086404e6

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.3e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.198e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 5.62e0

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

GenotypeQuality
all individuals: 2000
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 22491
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12893
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3333
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

FS
type: SiteQuality
SIO_000300: 1.295e0

QD
type: SiteQuality
SIO_000300: 1.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 2.085949e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

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

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

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

GenotypeQuality
all individuals: 12891
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3331
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.085996e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.429e1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1999
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12891
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.66e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.085996e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2001
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4987
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.89784e2

MQRankSum
type: SiteQuality
SIO_000300: -8.263e0

QD
type: SiteQuality
SIO_000300: 1.105e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

DP
type: SiteQuality
SIO_000300: 2.085928e6

MQ
type: SiteQuality
SIO_000300: 5.155e1

VQSLOD
type: SiteQuality
SIO_000300: -3.711e1

GenotypeQuality
all individuals: 3328
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12888
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.824e1

DP
type: SiteQuality
SIO_000300: 2.08589e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.208e1

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 1.86975e2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 22454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12889
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2996
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e0

DP
type: SiteQuality
SIO_000300: 2.086012e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

FS
type: SiteQuality
SIO_000300: 5.0528e1

VQSLOD
type: SiteQuality
SIO_000300: -4.02e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7780
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12887
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4153
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3328
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 5.13e0

QD
type: SiteQuality
SIO_000300: 1.687e1

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 2.085928e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

GenotypeQuality
all individuals: 3307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22423
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13064
bin: 9.75e1
variant carriers: 445

GenotypeQuality
all individuals: 4957
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4131
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.469317199654278e-3
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 434
allele frequency: 4.171472510572857e-2
allele num: 10404
num of homozygotes: 11

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.34e0

DP
type: SiteQuality
SIO_000300: 2.110287e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12738
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2988
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22636
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

DP
type: SiteQuality
SIO_000300: 2.083484e6

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

FS
type: SiteQuality
SIO_000300: 2.322e0

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.342e0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7805
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2988
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22651
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.083382e6

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.143e0

GenotypeQuality
all individuals: 4982
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2989
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22651
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12741
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048940570024275e-4
allele num: 66734
num of homozygotes: 0

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

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

African
type: Population
allele count: 11
allele frequency: 1.05708245243129e-3
allele num: 10406
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.333e1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.084505e6

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

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2988
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4151
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1993
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.348e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.373e1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 2.083204e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.155e0

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

GenotypeQuality
all individuals: 4153
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2989
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12727
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 1993
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.979e0

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 2.083346e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.256e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.771e0

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

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

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

GenotypeQuality
all individuals: 7805
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4980
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1993
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12722
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

FS
type: SiteQuality
SIO_000300: 1.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

DP
type: SiteQuality
SIO_000300: 2.083324e6

QD
type: SiteQuality
SIO_000300: 1.368e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

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

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

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7805
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1993
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22686
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.802e0

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 2.083327e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

GenotypeQuality
all individuals: 1991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22699
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12726
bin: 9.75e1
variant carriers: 17

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

GenotypeQuality
all individuals: 7804
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4978
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4154
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.71e-1

FS
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.084664e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

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

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

GenotypeQuality
all individuals: 7806
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22703
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12716
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4154
bin: 8.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.551e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

FS
type: SiteQuality
SIO_000300: 3.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

DP
type: SiteQuality
SIO_000300: 2.083206e6

GenotypeQuality
all individuals: 12712
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1991
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4981
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2992
bin: 9.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 9
allele frequency: 1.040221914008322e-3
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.285e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.084206e6

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 4981
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12711
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 4151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22713
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

DP
type: SiteQuality
SIO_000300: 2.083351e6

QD
type: SiteQuality
SIO_000300: 1.284e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 2.448e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

GenotypeQuality
all individuals: 12709
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 22710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 1.392e0

QD
type: SiteQuality
SIO_000300: 1.444e1

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.627e0

DP
type: SiteQuality
SIO_000300: 2.083066e6

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

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12708
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7797
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22711
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.641e0

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 2.083057e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

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

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

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

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

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

GenotypeQuality
all individuals: 4151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7795
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 2.0825e6

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.303e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.148e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

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

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

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

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12755
bin: 9.75e1
variant carriers: 132

GenotypeQuality
all individuals: 2981
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7789
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4145
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 123
allele frequency: 1.421965317919075e-2
allele num: 8650
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.849855630413859e-4
allele num: 10390
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.093226e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 22688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4983
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 8.095000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

DP
type: SiteQuality
SIO_000300: 2.081292e6

QD
type: SiteQuality
SIO_000300: 1.424e1

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

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

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12648
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2987
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.262e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.998e0

DP
type: SiteQuality
SIO_000300: 2.081352e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

GenotypeQuality
all individuals: 3311
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4977
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4149
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2988
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.079763e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.213e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.305e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.83e-1

FS
type: SiteQuality
SIO_000300: 7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.021e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.08e-1

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4969
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12647
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.82e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

FS
type: SiteQuality
SIO_000300: 9.162000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

QD
type: SiteQuality
SIO_000300: 9.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 2.076448e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 3293
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4141
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4965
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

DP
type: SiteQuality
SIO_000300: 2.074439e6

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
SIO_000300: 4.295e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.41e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 3292
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7728
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4958
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12643
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.453e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.04e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 2.070834e6

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12643
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2987
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3292
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012048192771084e-5
allele num: 66400
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e0

DP
type: SiteQuality
SIO_000300: 2.070869e6

FS
type: SiteQuality
SIO_000300: 2.533e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.713e1

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
all individuals: 7656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12642
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 21497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

DP
type: SiteQuality
SIO_000300: 2.063195e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.05e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

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

GenotypeQuality
all individuals: 1064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12659
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 7629
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1989
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4945
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.041383476816191e-5
allele num: 66210
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.509603695599319e-4
allele num: 16452
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

DP
type: SiteQuality
SIO_000300: 2.059772e6

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

MQ
type: SiteQuality
SIO_000300: 6.011e1

QD
type: SiteQuality
SIO_000300: 1.496e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 4949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12642
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

DP
type: SiteQuality
SIO_000300: 2.057074e6

QD
type: SiteQuality
SIO_000300: 1.31e1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-5
allele num: 66040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.545e0

DP
type: SiteQuality
SIO_000300: 2.039516e6

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.76e0

MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 3223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12630
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1980
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4101
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65976
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.948269001193792e-5
allele num: 10052
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.909e0

FS
type: SiteQuality
SIO_000300: 1.358e0

DP
type: SiteQuality
SIO_000300: 2.028092e6

QD
type: SiteQuality
SIO_000300: 1.548e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 191
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 943
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1768
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 12543
bin: 6.25e1
variant carriers: 11

GenotypeQuality
all individuals: 1930
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2841
bin: 7.25e1
variant carriers: 12

GenotypeQuality
all individuals: 784
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 281
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2624
bin: 9.25e1
variant carriers: 18

GenotypeQuality
all individuals: 1058
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 16337
bin: 9.75e1
variant carriers: 5587

African
type: Population
allele count: 620
allele frequency: 6.256306760847628e-2
allele num: 9910
num of homozygotes: 25

Other
type: Population
allele count: 52
allele frequency: 5.829596412556054e-2
allele num: 892
num of homozygotes: 1

East Asian
type: Population
allele count: 1130
allele frequency: 1.329724641092022e-1
allele num: 8498
num of homozygotes: 84

European (Finnish)
type: Population
allele count: 241
allele frequency: 3.652622006668688e-2
allele num: 6598
num of homozygotes: 6

South Asian
type: Population
allele count: 1050
allele frequency: 6.416524077242727e-2
allele num: 16364
num of homozygotes: 37

Latino
type: Population
allele count: 367
allele frequency: 3.20412083115069e-2
allele num: 11454
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 2425
allele frequency: 3.693380852295227e-2
allele num: 65658
num of homozygotes: 42

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e0

DP
type: SiteQuality
SIO_000300: 1.989813e6

QD
type: SiteQuality
SIO_000300: 1.46e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e0

GenotypeQuality
all individuals: 1485
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3987
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527837193668643e-5
allele num: 65452
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

FS
type: SiteQuality
SIO_000300: 6.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.623e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.933516e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

GenotypeQuality
all individuals: 185
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12200
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1827
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11679
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5997
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65484
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.127450980392157e-5
allele num: 16320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

VQSLOD
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.512e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 1.932599e6

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6104
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44427
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 294
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.459609064175748e-4
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.407246e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 6.999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.489e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
all individuals: 1777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44424
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 354
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.538e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -7.21e-1

DP
type: SiteQuality
SIO_000300: 3.408268e6

FS
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.481e1

GenotypeQuality
all individuals: 961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44428
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 636
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6608
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

FS
type: SiteQuality
SIO_000300: 3.426e0

QD
type: SiteQuality
SIO_000300: 1.67e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e0

DP
type: SiteQuality
SIO_000300: 3.409734e6

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
all individuals: 1125
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.411481e6

VQSLOD
type: SiteQuality
SIO_000300: -2.927e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

QD
type: SiteQuality
SIO_000300: 1.218e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: -1.188e0

MQ
type: SiteQuality
SIO_000300: 5.824e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.528e0

FS
type: SiteQuality
SIO_000300: 4.971e0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.412238e6

FS
type: SiteQuality
SIO_000300: 3.064e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.115e0

VQSLOD
type: SiteQuality
SIO_000300: 3.27e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

GenotypeQuality
all individuals: 436
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44438
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.281e1

MQRankSum
type: SiteQuality
SIO_000300: -1.255e0

MQ
type: SiteQuality
SIO_000300: 5.898e1

VQSLOD
type: SiteQuality
SIO_000300: -7.128e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.575e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 3.419729e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

GenotypeQuality
all individuals: 7692
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

DP
type: SiteQuality
SIO_000300: 3.421148e6

FS
type: SiteQuality
SIO_000300: 1.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.63e-1

GenotypeQuality
all individuals: 7803
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 817
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44444
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

DP
type: SiteQuality
SIO_000300: 3.422846e6

FS
type: SiteQuality
SIO_000300: 7.706e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.769e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

QD
type: SiteQuality
SIO_000300: 7.88e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44467
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1170
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

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

East Asian
type: Population
allele count: 32
allele frequency: 3.700277520814061e-3
allele num: 8648
num of homozygotes: 2

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

DP
type: SiteQuality
SIO_000300: 3.426814e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.560000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

FS
type: SiteQuality
SIO_000300: 6.02e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

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

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44467
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 326
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.7e0

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

DP
type: SiteQuality
SIO_000300: 3.42972e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.381e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.601e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 859
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44469
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.007157033740302e-4
allele num: 66508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 1.297e0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 3.430936e6

QD
type: SiteQuality
SIO_000300: 1.445e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

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

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44470
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.438793e6

FS
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.477e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.99e-1

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

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

GenotypeQuality
all individuals: 667
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44479
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.401464893585087e-4
allele num: 66626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.619e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

FS
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.138e1

DP
type: SiteQuality
SIO_000300: 3.442963e6

GenotypeQuality
all individuals: 680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44486
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.086e0

DP
type: SiteQuality
SIO_000300: 3.444085e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 9.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

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

GenotypeQuality
all individuals: 1338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44502
bin: 9.75e1
variant carriers: 1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.446091e6

FS
type: SiteQuality
SIO_000300: 1.4978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.418e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.093e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.409e0

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

GenotypeQuality
all individuals: 44502
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 685
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8525
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.093e1

DP
type: SiteQuality
SIO_000300: 3.446295e6

VQSLOD
type: SiteQuality
SIO_000300: -1.709e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.913e0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 1.784e0

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

GenotypeQuality
all individuals: 8503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44514
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.447103e6

FS
type: SiteQuality
SIO_000300: 6.828e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.789e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

MQ
type: SiteQuality
SIO_000300: 5.863e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 44522
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 947
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

QD
type: SiteQuality
SIO_000300: 1.251e1

DP
type: SiteQuality
SIO_000300: 3.4476e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.209e0

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

GenotypeQuality
all individuals: 8482
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1350
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 948
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44522
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.447951e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.38e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

FS
type: SiteQuality
SIO_000300: 4.407e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

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

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53515
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 207
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5035
bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.99e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 2.37e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.329e0

FS
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 5.307963e6