http://identifiers.org/exac.variant/12-89860622-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860622
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860622
    reference: chr 12
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.957T>G
  hgvsp: ENSP00000323302.3:p.Phe319Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.192T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*205T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.317T>G
  hgvsp: ENSP00000367789.2:p.Leu106Trp
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.620T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.623T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.209T>G
  hgvsp: ENSP00000450118.1:p.Leu70Trp
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.567T>G
  hgvsp: ENSP00000376877.4:p.Phe189Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.1055T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.567T>G
  hgvsp: ENSP00000440301.1:p.Phe189Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.831T>G
  hgvsp: ENSP00000447916.1:p.Phe277Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*632T>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe319Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-89860628-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860628
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860628
    reference: chr 12
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.203A>G
  hgvsp: ENSP00000450118.1:p.Tyr68Cys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.561A>G
  hgvsp: ENST00000541909.1:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.561A>G
  hgvsp: ENST00000393179.4:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.825A>G
  hgvsp: ENST00000549035.1:c.825A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.951A>G
  hgvsp: ENST00000313546.3:c.951A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*626A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*199A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.617A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.1049A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.311A>G
  hgvsp: ENSP00000367789.2:p.Tyr104Cys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.614A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.186A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr104Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-89860642-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860642
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860642
    reference: chr 12
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.172A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.189A>C
  hgvsp: ENSP00000450118.1:p.Glu63Asp
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.600A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.297A>C
  hgvsp: ENSP00000367789.2:p.Glu99Asp
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.1035A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.547A>C
  hgvsp: ENSP00000440301.1:p.Asn183His
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.811A>C
  hgvsp: ENSP00000447916.1:p.Asn271His
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*612A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.547A>C
  hgvsp: ENSP00000376877.4:p.Asn183His
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.937A>C
  hgvsp: ENSP00000323302.3:p.Asn313His
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.603A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*185A>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn313His
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-89860644-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860644
    reference: chr 12
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.809G>T
  hgvsp: ENSP00000447916.1:p.Arg270Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.598G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*183G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.545G>T
  hgvsp: ENSP00000376877.4:p.Arg182Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.170G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.935G>T
  hgvsp: ENSP00000323302.3:p.Arg312Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.601G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.1033G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.295G>T
  hgvsp: ENSP00000367789.2:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*610G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.187G>T
  hgvsp: ENSP00000450118.1:p.Glu63Ter
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.545G>T
  hgvsp: ENSP00000440301.1:p.Arg182Ile
  variant of: http://identifiers.org/hgnc/30836
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu99Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

12-89860656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860656
    reference: chr 12
allele count: 2
allele frequency: 1.652783287055401e-5
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.797G>A
  hgvsp: ENSP00000447916.1:p.Gly266Asp
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*171G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.158G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.533G>A
  hgvsp: ENSP00000440301.1:p.Gly178Asp
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.533G>A
  hgvsp: ENSP00000376877.4:p.Gly178Asp
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.175G>A
  hgvsp: ENSP00000450118.1:p.Val59Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.283G>A
  hgvsp: ENSP00000367789.2:p.Val95Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.586G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.589G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*598G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.923G>A
  hgvsp: ENSP00000323302.3:p.Gly308Asp
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.1021G>A
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly308Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-89860657-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860657
    reference: chr 12
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*597G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.282G>C
  hgvsp: ENSP00000367789.2:p.Lys94Asn
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.174G>C
  hgvsp: ENSP00000450118.1:p.Lys58Asn
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.588G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.1020G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.585G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.157G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.922G>C
  hgvsp: ENSP00000323302.3:p.Gly308Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.532G>C
  hgvsp: ENSP00000376877.4:p.Gly178Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.532G>C
  hgvsp: ENSP00000440301.1:p.Gly178Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*170G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.796G>C
  hgvsp: ENSP00000447916.1:p.Gly266Arg
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly308Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-89860672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860672
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860672
    reference: chr 12
allele count: 10
allele frequency: 8.281299170213823e-5
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.517G>A
  hgvsp: ENSP00000440301.1:p.Glu173Lys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.517G>A
  hgvsp: ENSP00000376877.4:p.Glu173Lys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.907G>A
  hgvsp: ENSP00000323302.3:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.781G>A
  hgvsp: ENSP00000447916.1:p.Glu261Lys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.267G>A
  hgvsp: ENSP00000367789.2:p.Met89Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.573G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*582G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*155G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.1005G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.159G>A
  hgvsp: ENSP00000450118.1:p.Met53Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.570G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.142G>A
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu303Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

12-89860697-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860697
    reference: chr 12
allele count: 3
allele frequency: 2.513699663164245e-5
allele num: 119346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.492C>G
  hgvsp: ENST00000541909.1:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*130C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.882C>G
  hgvsp: ENST00000313546.3:c.882C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.756C>G
  hgvsp: ENST00000549035.1:c.756C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.980C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.492C>G
  hgvsp: ENST00000393179.4:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.548C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.117C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.134C>G
  hgvsp: ENSP00000450118.1:p.Ser45Cys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.242C>G
  hgvsp: ENSP00000367789.2:p.Ser81Cys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*557C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.545C>G
  variant of: http://identifiers.org/hgnc/30836
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11273
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser45Cys
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-89860699-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860699
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860699
    reference: chr 12
allele count: 1
allele frequency: 8.393204861344255e-6
allele num: 119144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.490G>T
  hgvsp: ENSP00000440301.1:p.Val164Phe
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.546G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.754G>T
  hgvsp: ENSP00000447916.1:p.Val252Phe
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.115G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.490G>T
  hgvsp: ENSP00000376877.4:p.Val164Phe
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.240G>T
  hgvsp: ENSP00000367789.2:p.Arg80Ser
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*555G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.880G>T
  hgvsp: ENSP00000323302.3:p.Val294Phe
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.132G>T
  hgvsp: ENSP00000450118.1:p.Arg44Ser
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.978G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.543G>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val294Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-89860699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860699
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860699
    reference: chr 12
allele count: 1
allele frequency: 8.393204861344255e-6
allele num: 119144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.490G>A
  hgvsp: ENSP00000376877.4:p.Val164Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.132G>A
  hgvsp: ENST00000549504.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.978G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.546G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.240G>A
  hgvsp: ENST00000378528.2:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.754G>A
  hgvsp: ENSP00000447916.1:p.Val252Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.880G>A
  hgvsp: ENSP00000323302.3:p.Val294Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.543G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.490G>A
  hgvsp: ENSP00000440301.1:p.Val164Ile
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.115G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*555G>A
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val294Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-89860706-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860706
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860706
    reference: chr 12
allele count: 8
allele frequency: 6.74980172457434e-5
allele num: 118522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*555-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.240-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.115-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.978-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.546-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.543-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.880-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.490-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.132-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.754-7T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.490-7T>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.880-7T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-89860715-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860715
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860715
    reference: chr 12
allele count: 1
allele frequency: 8.481044864727334e-6
allele num: 117910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.490-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.490-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.754-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.240-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.543-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.546-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.978-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*555-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.132-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.880-16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.115-16T>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-89860739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860739
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860739
    reference: chr 12
allele count: 2
allele frequency: 1.739886907351022e-5
allele num: 114950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.543-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.240-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.490-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.490-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.978-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.132-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*555-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.115-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.546-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.754-40G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.880-40G>A
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-89860741-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860741
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860741
    reference: chr 12
allele count: 2
allele frequency: 1.735568745878024e-5
allele num: 115236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.978-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.490-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.115-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.240-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.754-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.490-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*555-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.543-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.546-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.132-42A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.880-42A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-89860749-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89860749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89860749
    reference: chr 12
allele count: 2
allele frequency: 1.760315448528376e-5
allele num: 113616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.546-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.543-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.754-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.240-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.978-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.490-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*555-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.490-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.115-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.880-50G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.132-50G>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

12-89861345-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861345
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861345
    reference: chr 12
allele count: 2
allele frequency: 2.057486163405551e-5
allele num: 97206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.879+49C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.489+49C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.239+49C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*554+49C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.545+49C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.977+49C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-646C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.131+49C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.753+49C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.542+49C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.489+49C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.114+49C>A
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16038
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-89861351-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861351
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861351
    reference: chr 12
allele count: 2
allele frequency: 2.046580164545045e-5
allele num: 97724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-652A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.545+43A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.977+43A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.879+43A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.489+43A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.542+43A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.489+43A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.131+43A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*554+43A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.239+43A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.114+43A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.753+43A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-89861351-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861351
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861351
    reference: chr 12
allele count: 7
allele frequency: 7.163030575907658e-5
allele num: 97724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.131+43A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.239+43A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.879+43A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-652A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.489+43A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.753+43A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*554+43A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.977+43A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.489+43A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.545+43A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.542+43A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.114+43A>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

12-89861365-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861365
    reference: chr 12
allele count: 1
allele frequency: 1.007719128524498e-5
allele num: 99234
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.879+29T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.542+29T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.239+29T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.545+29T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-666T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*554+29T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.753+29T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.489+29T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.489+29T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.114+29T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.131+29T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.977+29T>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/12-89861367-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861367
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861367
    reference: chr 12
allele count: 2
allele frequency: 2.011586739620213e-5
allele num: 99424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.489+27G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-668G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.545+27G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.131+27G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.489+27G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.879+27G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.239+27G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.753+27G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*554+27G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.542+27G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.977+27G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.114+27G>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-89861377-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861377
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861377
    reference: chr 12
allele count: 1
allele frequency: 9.755716850074144e-6
allele num: 102504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.545+17G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.114+17G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.753+17G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-678G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*554+17G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.131+17G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.977+17G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.489+17G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.239+17G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.542+17G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.879+17G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.489+17G>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

12-89861383-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861383
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861383
    reference: chr 12
allele count: 33
allele frequency: 3.157592574873218e-4
allele num: 104510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.542+11C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.239+11C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.131+11C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.114+11C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.489+11C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*554+11C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-684C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.977+11C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.545+11C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.753+11C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.489+11C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.879+11C>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28910
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-89861384-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861383
    reference: chr 12
allele count: 1
allele frequency: 9.529799683610651e-6
allele num: 104934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.239+9delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.545+9delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.977+9delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.131+9delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.879+9delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.489+9delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.489+9delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*554+9delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.542+9delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-686delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.114+9delA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.753+9delA
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: AT
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

12-89861385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861385
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861385
    reference: chr 12
allele count: 3
allele frequency: 2.851873681008423e-5
allele num: 105194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.545+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*554+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.131+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.542+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-686A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.489+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.753+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.489+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.879+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.239+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.114+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.977+9A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29645
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-89861401-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861401
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861401
    reference: chr 12
allele count: 1
allele frequency: 9.068978651624254e-6
allele num: 110266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.107A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.872A>G
  hgvsp: ENSP00000323302.3:p.Asp291Gly
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.538A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.232A>G
  hgvsp: ENSP00000367789.2:p.Thr78Ala
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*547A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.746A>G
  hgvsp: ENSP00000447916.1:p.Asp249Gly
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.535A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.124A>G
  hgvsp: ENSP00000450118.1:p.Thr42Ala
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.482A>G
  hgvsp: ENSP00000440301.1:p.Asp161Gly
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.970A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-702A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.482A>G
  hgvsp: ENSP00000376877.4:p.Asp161Gly
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp291Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

12-89861405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861405
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861405
    reference: chr 12
allele count: 1
allele frequency: 9.003169115528666e-6
allele num: 111072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.120G>A
  hgvsp: ENST00000549504.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.478G>A
  hgvsp: ENSP00000376877.4:p.Ala160Thr
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.228G>A
  hgvsp: ENST00000378528.2:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.534G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-706G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.103G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.531G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*543G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.868G>A
  hgvsp: ENSP00000323302.3:p.Ala290Thr
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.478G>A
  hgvsp: ENSP00000440301.1:p.Ala160Thr
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.966G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.742G>A
  hgvsp: ENSP00000447916.1:p.Ala248Thr
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala290Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-89861415-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861415
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861415
    reference: chr 12
allele count: 67
allele frequency: 5.977019697402227e-4
allele num: 112096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.468A>G
  hgvsp: ENST00000393179.4:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.521A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.218A>G
  hgvsp: ENSP00000367789.2:p.His73Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.468A>G
  hgvsp: ENST00000541909.1:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.93A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.732A>G
  hgvsp: ENST00000549035.1:c.732A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.956A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.858A>G
  hgvsp: ENST00000313546.3:c.858A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-716A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.110A>G
  hgvsp: ENSP00000450118.1:p.His37Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.524A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*533A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34744
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His73Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

12-89861416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861416
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861416
    reference: chr 12
allele count: 1
allele frequency: 8.918060856847287e-6
allele num: 112132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.520C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.523C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-717C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.109C>T
  hgvsp: ENSP00000450118.1:p.His37Tyr
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.857C>T
  hgvsp: ENSP00000323302.3:p.Ala286Val
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.467C>T
  hgvsp: ENSP00000440301.1:p.Ala156Val
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*532C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.92C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.955C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.467C>T
  hgvsp: ENSP00000376877.4:p.Ala156Val
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.731C>T
  hgvsp: ENSP00000447916.1:p.Ala244Val
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.217C>T
  hgvsp: ENSP00000367789.2:p.His73Tyr
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala286Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-89861418-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861418
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861418
    reference: chr 12
allele count: 1
allele frequency: 8.912338241060925e-6
allele num: 112204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.521T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.855T>G
  hgvsp: ENSP00000323302.3:p.Phe285Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.465T>G
  hgvsp: ENSP00000440301.1:p.Phe155Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.518T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.953T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.107T>G
  hgvsp: ENSP00000450118.1:p.Leu36Trp
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.90T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*530T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.215T>G
  hgvsp: ENSP00000367789.2:p.Leu72Trp
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-719T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.729T>G
  hgvsp: ENSP00000447916.1:p.Phe243Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.465T>G
  hgvsp: ENSP00000376877.4:p.Phe155Leu
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11203
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe285Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/12-89861419-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861419
    reference: chr 12
allele count: 1
allele frequency: 8.910432334176854e-6
allele num: 112228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.106T>G
  hgvsp: ENSP00000450118.1:p.Leu36Val
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*529T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.520T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.517T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.854T>G
  hgvsp: ENSP00000323302.3:p.Phe285Cys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.728T>G
  hgvsp: ENSP00000447916.1:p.Phe243Cys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-720T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.214T>G
  hgvsp: ENSP00000367789.2:p.Leu72Val
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.952T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.464T>G
  hgvsp: ENSP00000440301.1:p.Phe155Cys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.464T>G
  hgvsp: ENSP00000376877.4:p.Phe155Cys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.89T>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34702
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe285Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

12-89861421-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861421
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861421
    reference: chr 12
allele count: 1
allele frequency: 8.912020533295308e-6
allele num: 112208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.87A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.212A>G
  hgvsp: ENSP00000367789.2:p.Tyr71Cys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.726A>G
  hgvsp: ENST00000549035.1:c.726A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.104A>G
  hgvsp: ENSP00000450118.1:p.Tyr35Cys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.515A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.518A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.462A>G
  hgvsp: ENST00000393179.4:c.462A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.852A>G
  hgvsp: ENST00000313546.3:c.852A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-722A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.462A>G
  hgvsp: ENST00000541909.1:c.462A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.950A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*527A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr71Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-89861423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861423
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861423
    reference: chr 12
allele count: 1
allele frequency: 8.91392711973187e-6
allele num: 112184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.460C>T
  hgvsp: ENST00000541909.1:c.460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.850C>T
  hgvsp: ENST00000313546.3:c.850C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*525C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.102C>T
  hgvsp: ENST00000549504.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.724C>T
  hgvsp: ENST00000549035.1:c.724C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.948C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.210C>T
  hgvsp: ENST00000378528.2:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.460C>T
  hgvsp: ENST00000393179.4:c.460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.85C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.513C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-724C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.516C>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11324
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu284Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-89861426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861426
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861426
    reference: chr 12
allele count: 4
allele frequency: 3.568051665388115e-5
allele num: 112106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*522G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.457G>A
  hgvsp: ENSP00000440301.1:p.Glu153Lys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.510G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.457G>A
  hgvsp: ENSP00000376877.4:p.Glu153Lys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.847G>A
  hgvsp: ENSP00000323302.3:p.Glu283Lys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.82G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.513G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-727G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.721G>A
  hgvsp: ENSP00000447916.1:p.Glu241Lys
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.945G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.99G>A
  hgvsp: ENST00000549504.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.207G>A
  hgvsp: ENST00000378528.2:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34146
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu283Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

12-89861438-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861438
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861438
    reference: chr 12
allele count: 1
allele frequency: 9.035545837324032e-6
allele num: 110674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.933T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.87T>C
  hgvsp: ENST00000549504.1:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.195T>C
  hgvsp: ENST00000378528.2:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.709T>C
  hgvsp: ENSP00000447916.1:p.Ser237Pro
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.445T>C
  hgvsp: ENSP00000376877.4:p.Ser149Pro
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.498T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.445T>C
  hgvsp: ENSP00000440301.1:p.Ser149Pro
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.835T>C
  hgvsp: ENSP00000323302.3:p.Ser279Pro
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*510T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.501T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-739T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.70T>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser279Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

12-89861441-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861441
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861441
    reference: chr 12
allele count: 1
allele frequency: 9.080837616461742e-6
allele num: 110122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.192T>C
  hgvsp: ENST00000378528.2:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.442T>C
  hgvsp: ENSP00000376877.4:p.Phe148Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*507T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.930T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.498T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.832T>C
  hgvsp: ENSP00000323302.3:p.Phe278Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.706T>C
  hgvsp: ENSP00000447916.1:p.Phe236Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.495T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.442T>C
  hgvsp: ENSP00000440301.1:p.Phe148Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.67T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-742T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.84T>C
  hgvsp: ENST00000549504.1:c.84T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe278Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-89861444-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861444
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861444
    reference: chr 12
allele count: 1
allele frequency: 9.131085868731509e-6
allele num: 109516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.189T>G
  hgvsp: ENSP00000367789.2:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.439T>G
  hgvsp: ENSP00000376877.4:p.Ser147Ala
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.495T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.829T>G
  hgvsp: ENSP00000323302.3:p.Ser277Ala
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.703T>G
  hgvsp: ENSP00000447916.1:p.Ser235Ala
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*504T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.81T>G
  hgvsp: ENSP00000450118.1:p.Phe27Leu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-745T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.439T>G
  hgvsp: ENSP00000440301.1:p.Ser147Ala
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.927T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.492T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.64T>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser277Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-89861448-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861448
    reference: chr 12
allele count: 1
allele frequency: 9.247785155455268e-6
allele num: 108134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.185T>G
  hgvsp: ENSP00000367789.2:p.Leu62Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*500T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.491T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-749T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.825T>G
  hgvsp: ENST00000313546.3:c.825T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.923T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.60T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.435T>G
  hgvsp: ENST00000541909.1:c.435T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.77T>G
  hgvsp: ENSP00000450118.1:p.Leu26Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.699T>G
  hgvsp: ENST00000549035.1:c.699T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.435T>G
  hgvsp: ENST00000393179.4:c.435T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.488T>G
  variant of: http://identifiers.org/hgnc/30836
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28448
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu62Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-89861459-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861459
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861459
    reference: chr 12
allele count: 8
allele frequency: 7.70341839191141e-5
allele num: 103850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.480C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.814C>T
  hgvsp: ENSP00000323302.3:p.Pro272Ser
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.49C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.174C>T
  hgvsp: ENST00000378528.2:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.477C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.912C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.688C>T
  hgvsp: ENSP00000447916.1:p.Pro230Ser
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.424C>T
  hgvsp: ENSP00000440301.1:p.Pro142Ser
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.424C>T
  hgvsp: ENSP00000376877.4:p.Pro142Ser
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*489C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.66C>T
  hgvsp: ENST00000549504.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-760C>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23157
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro272Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

12-89861461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861461
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861461
    reference: chr 12
allele count: 1
allele frequency: 9.753623471119521e-6
allele num: 102526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.475G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.172G>A
  hgvsp: ENSP00000367789.2:p.Asp58Asn
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.910G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-762G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.812G>A
  hgvsp: ENSP00000323302.3:p.Gly271Glu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.422G>A
  hgvsp: ENSP00000376877.4:p.Gly141Glu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*487G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.64G>A
  hgvsp: ENSP00000450118.1:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.686G>A
  hgvsp: ENSP00000447916.1:p.Gly229Glu
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.47G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.478G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.422G>A
  hgvsp: ENSP00000440301.1:p.Gly141Glu
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10882
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly271Glu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

12-89861465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861465
    reference: chr 12
allele count: 28
allele frequency: 2.824004034291478e-4
allele num: 99150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.171-3C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.685-3C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.811-3C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.474-3C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-3C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.421-3C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.421-3C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.909-3C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-3C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-766C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.46-3C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*486-3C>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17376
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.811-3C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-89861468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861468
    reference: chr 12
allele count: 1
allele frequency: 1.090560111673355e-5
allele num: 91696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.171-6T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.421-6T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*486-6T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-6T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.474-6T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.685-6T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.909-6T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.421-6T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.811-6T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-769T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-6T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.46-6T>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.811-6T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

12-89861475-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861475
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861475
    reference: chr 12
allele count: 4
allele frequency: 4.373400975268417e-5
allele num: 91462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.421-13C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.46-13C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.171-13C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-776C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*486-13C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.685-13C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.474-13C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.421-13C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.909-13C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.811-13C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-13C>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-13C>A
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18280
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-89861477-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861477
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861477
    reference: chr 12
allele count: 2
allele frequency: 2.23139573803414e-5
allele num: 89630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.685-15C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.421-15C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.811-15C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.46-15C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*486-15C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-15C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-778C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.171-15C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.421-15C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.474-15C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-15C>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.909-15C>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

12-89861486-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861486
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861486
    reference: chr 12
allele count: 143
allele frequency: 1.673924240295922e-3
allele num: 85428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.421-24T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-24T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.171-24T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*486-24T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-24T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.685-24T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.421-24T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.46-24T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-787T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.811-24T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.909-24T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.474-24T>A
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21655
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14104
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-89861493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861493
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861493
    reference: chr 12
allele count: 1
allele frequency: 1.237195031424754e-5
allele num: 80828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.171-31C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.46-31C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.421-31C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-31C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-31C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.811-31C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.474-31C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*486-31C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.909-31C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-794C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.421-31C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.685-31C>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-89861496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861496
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861496
    reference: chr 12
allele count: 2
allele frequency: 2.674869600106995e-5
allele num: 74770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*486-34G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-34G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.811-34G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.171-34G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.421-34G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.421-34G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-797G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.909-34G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.46-34G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-34G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.685-34G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.474-34G>A
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20502
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16661
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-89861499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861499
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861499
    reference: chr 12
allele count: 14
allele frequency: 1.872859589041096e-4
allele num: 74752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.811-37C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.474-37C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-37C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*486-37C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.421-37C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.909-37C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.685-37C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.46-37C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.421-37C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-800C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.171-37C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-37C>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20384
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16956
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

12-89861506-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89861506
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89861506
    reference: chr 12
allele count: 1
allele frequency: 1.474969763119856e-5
allele num: 67798
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.811-44G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.421-44G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.171-44G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.685-44G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-807G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.421-44G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-44G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*486-44G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.909-44G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-44G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.474-44G>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.46-44G>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-89864089-ATTATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864089
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864084
    reference: chr 12
allele count: 2
allele frequency: 1.616553507921112e-4
allele num: 12372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2632_63-2628delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+44_45+48delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+44_420+48delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3395_*128-3391delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+44_810+48delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1851_170+1855delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+44_*485+48delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+44_684+48delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+44_473+48delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+44_908+48delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2632_477-2628delAATAA
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+44_420+48delAATAA
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: ATTATT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

12-89864091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864091
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864091
    reference: chr 12
allele count: 2
allele frequency: 1.589319771137953e-4
allele num: 12584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+47A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+47A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+47A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+47A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2629A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2629A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+47A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3392A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+47A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1854A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+47A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+47A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30741
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10668
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

12-89864094-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864094
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864094
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 13030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+44A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+44A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+44A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2632A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+44A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1851A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+44A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+44A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2632A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+44A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+44A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3395A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14594
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

12-89864097-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864097
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864097
    reference: chr 12
allele count: 36
allele frequency: 2.588438308886971e-3
allele num: 13908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2635T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1848T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+41T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+41T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+41T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2635T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+41T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3398T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+41T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+41T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+41T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+41T>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25731
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21696
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-89864098-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864098
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864098
    reference: chr 12
allele count: 1
allele frequency: 6.866245536940401e-5
allele num: 14564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+40A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+40A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1847A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2636A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+40A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+40A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+40A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+40A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+40A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2636A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+40A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3399A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-89864105-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864105
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864105
    reference: chr 12
allele count: 1
allele frequency: 3.031405359524676e-5
allele num: 32988
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+33T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1840T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2643T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+33T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+33T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3406T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+33T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2643T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+33T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+33T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+33T>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+33T>A
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-89864106-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864106
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864106
    reference: chr 12
allele count: 2
allele frequency: 4.996252810392206e-5
allele num: 40030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+32A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+32A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1839A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+32A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+32A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2644A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+32A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3407A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2644A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+32A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+32A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+32A>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

12-89864110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864110
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864110
    reference: chr 12
allele count: 3
allele frequency: 4.355906609362295e-5
allele num: 68872
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+28A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+28A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+28A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2648A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+28A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+28A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3411A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2648A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+28A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+28A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+28A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1835A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29118
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-89864110-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864110
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864110
    reference: chr 12
allele count: 3
allele frequency: 4.355906609362295e-5
allele num: 68872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3411A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+28A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+28A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+28A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+28A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2648A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+28A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+28A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1835A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2648A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+28A>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+28A>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-89864120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864120
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864120
    reference: chr 12
allele count: 8
allele frequency: 7.24874053133268e-5
allele num: 110364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+18C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+18C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1825C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+18C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+18C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2658C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+18C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2658C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+18C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+18C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+18C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3421C>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48619
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/12-89864121-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864121
    reference: chr 12
allele count: 1
allele frequency: 8.934634216075193e-6
allele num: 111924
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+17T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1824T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+17T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+17T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+17T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+17T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2659T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+17T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+17T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3422T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2659T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+17T>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49354
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

12-89864122-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864122
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864122
    reference: chr 12
allele count: 2
allele frequency: 1.768065206244806e-5
allele num: 113118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1823T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2660T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3423T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+16T>C
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2660T>C
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-89864129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864129
    reference: chr 12
allele count: 1
allele frequency: 8.499354049092269e-6
allele num: 117656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2667A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3430A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1816A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+9A>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2667A>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-89864136-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864136
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864136
    reference: chr 12
allele count: 1
allele frequency: 8.374507997655138e-6
allele num: 119410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3437T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+2T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+2T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+2T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+2T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+2T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1809T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+2T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2674T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+2T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+2T>G
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2674T>G
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.810+2T>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-89864137-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864137
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864137
    reference: chr 12
allele count: 3
allele frequency: 2.509116456458466e-5
allele num: 119564
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684+1G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485+1G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420+1G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1808G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908+1G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473+1G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3438G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45+1G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810+1G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2675G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420+1G>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2675G>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.810+1G>T
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

12-89864138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864138
    reference: chr 12
allele count: 2
allele frequency: 1.670257720766314e-5
allele num: 119742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2676G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.684G>A
  hgvsp: ENST00000549035.1:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.908G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3439G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.473G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.45G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*485G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.420G>A
  hgvsp: ENST00000541909.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.810G>A
  hgvsp: ENST00000313546.3:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1807G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2676G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.420G>A
  hgvsp: ENST00000393179.4:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52107
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.810G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

12-89864139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864139
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864139
    reference: chr 12
allele count: 47
allele frequency: 3.919279519679787e-4
allele num: 119920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.907C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.419C>T
  hgvsp: ENSP00000376877.4:p.Thr140Met
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.472C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2677C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*484C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.809C>T
  hgvsp: ENSP00000323302.3:p.Thr270Met
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.683C>T
  hgvsp: ENSP00000447916.1:p.Thr228Met
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2677C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.419C>T
  hgvsp: ENSP00000440301.1:p.Thr140Met
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.44C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1806C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3440C>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52016
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr270Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff

12-89864146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864146
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864146
    reference: chr 12
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.900G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2684G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3447G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.676G>A
  hgvsp: ENSP00000447916.1:p.Gly226Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.412G>A
  hgvsp: ENSP00000440301.1:p.Gly138Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.802G>A
  hgvsp: ENSP00000323302.3:p.Gly268Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1799G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.465G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2684G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.37G>A
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.412G>A
  hgvsp: ENSP00000376877.4:p.Gly138Arg
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*477G>A
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly268Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

12-89864149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89864149
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 89864149
    reference: chr 12
allele count: 4
allele frequency: 3.310819758972322e-5
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000440301
  ensembl transcript: ENST00000541909
  gene symbol: POC1B
  hgvsc: ENST00000541909.1:c.409C>T
  hgvsp: ENSP00000440301.1:p.Gln137Ter
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000367789
  ensembl transcript: ENST00000378528
  gene symbol: POC1B
  hgvsc: ENST00000378528.2:c.170+1796C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447437
  ensembl transcript: ENST00000547496
  gene symbol: POC1B
  hgvsc: ENST00000547496.1:c.*474C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000552563
  gene symbol: POC1B
  hgvsc: ENST00000552563.1:n.477-2687C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000539190
  gene symbol: POC1B
  hgvsc: ENST00000539190.2:n.897C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000376877
  ensembl transcript: ENST00000393179
  gene symbol: POC1B
  hgvsc: ENST00000393179.4:c.409C>T
  hgvsp: ENSP00000376877.4:p.Gln137Ter
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000447916
  ensembl transcript: ENST00000549035
  gene symbol: POC1B
  hgvsc: ENST00000549035.1:c.673C>T
  hgvsp: ENSP00000447916.1:p.Gln225Ter
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000323302
  ensembl transcript: ENST00000313546
  gene symbol: POC1B
  hgvsc: ENST00000313546.3:c.799C>T
  hgvsp: ENSP00000323302.3:p.Gln267Ter
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000449945
  ensembl transcript: ENST00000548715
  gene symbol: POC1B
  hgvsc: ENST00000548715.1:c.*128-3450C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000551819
  gene symbol: POC1B
  hgvsc: ENST00000551819.1:n.34C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139323
  ensembl transcript: ENST00000549304
  gene symbol: POC1B
  hgvsc: ENST00000549304.1:n.462C>T
  variant of: http://identifiers.org/hgnc/30836
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139323
  ensembl protein: ENSP00000450118
  ensembl transcript: ENST00000549504
  gene symbol: POC1B
  hgvsc: ENST00000549504.1:c.63-2687C>T
  variant of: http://identifiers.org/hgnc/30836
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln267Ter
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 1707
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11738
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2665
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6247
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8986
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
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: 11524
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: 6596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.018306e6

FS
type: SiteQuality
SIO_000300: 2.976e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.494e1

MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

GenotypeDepth
all individuals: 204
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1720
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 35678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8983
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

QD
type: SiteQuality
SIO_000300: 1.28e1

DP
type: SiteQuality
SIO_000300: 2.017929e6

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

FS
type: SiteQuality
SIO_000300: 5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

GenotypeDepth
all individuals: 969
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 492
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8952
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1067
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35588
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

FS
type: SiteQuality
SIO_000300: 3.457e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.016495e6

QD
type: SiteQuality
SIO_000300: 2.067e1

GenotypeDepth
all individuals: 1707
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1720
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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African
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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FS
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ClippingRankSum
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DP
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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QD
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Latino
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European (Non-Finnish)
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African
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Other
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South Asian
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East Asian
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FS
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VQSLOD
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ReadPosRankSum
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DP
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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East Asian
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Latino
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South Asian
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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European (Finnish)
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QD
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FS
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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South Asian
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VQSLOD
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MQ
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QD
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1024
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.75377060680463e-4
allele num: 11404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.152480322167308e-5
allele num: 65556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 888
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South Asian
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.79e0

FS
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SIO_000300: 0.0e0

ClippingRankSum
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ReadPosRankSum
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SIO_000300: 3.86e-1

MQRankSum
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SIO_000300: 1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.944047e6

QD
type: SiteQuality
SIO_000300: 1.466e1

GenotypeDepth
all individuals: 703
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65300
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14998
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

ReadPosRankSum
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SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 6.065e0

InbreedingCoeff
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SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.55e-1

QD
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SIO_000300: 1.56e1

MQRankSum
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SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 1.899643e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.984914648670107e-4
allele num: 10076
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64182
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

BaseQRankSum
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SIO_000300: -3.125e0

DP
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SIO_000300: 1.717462e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
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SIO_000300: 1.273e1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: -3.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 225
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.110129692408174e-5
allele num: 64306
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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QD
type: SiteQuality
SIO_000300: 9.76e0

InbreedingCoeff
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SIO_000300: 8.0e-4

ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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SIO_000300: 6.009e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.715338e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13218
num of homozygotes: 0

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

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

Latino
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allele frequency: 1.794687724335966e-4
allele num: 11144
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.890142379211079e-5
allele num: 51412
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7412
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.2e-3

FS
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DP
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ClippingRankSum
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SIO_000300: 4.5e-1

BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1123
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

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

African
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allele count: 0
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num of homozygotes: 0

South Asian
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Latino
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allele frequency: 2.125398512221041e-4
allele num: 9410
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 821
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13820
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.053382420616659e-4
allele num: 8692
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.117032e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

VQSLOD
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SIO_000300: 2.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.375e1

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.898253606681853e-5
allele num: 52680
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13932
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 9.23e-1

ReadPosRankSum
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SIO_000300: -6.67e-1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.125e1

DP
type: SiteQuality
SIO_000300: 1.198462e6

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.786444528587656e-5
allele num: 52820
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.212639e6

MQRankSum
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SIO_000300: -5.0e-2

FS
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SIO_000300: 7.429e0

BaseQRankSum
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SIO_000300: -1.96e0

InbreedingCoeff
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SIO_000300: 5.0e-4

ClippingRankSum
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SIO_000300: -1.658e0

VQSLOD
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SIO_000300: -1.343e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 6.38e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1254
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.824151769427216e-5
allele num: 54820
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
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SIO_000300: 5.99e-1

BaseQRankSum
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SIO_000300: -1.827e0

InbreedingCoeff
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SIO_000300: 2.3e-3

ClippingRankSum
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SIO_000300: 1.59e-1

DP
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SIO_000300: 1.286762e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.428e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 259
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variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.867771857114664e-5
allele num: 10134
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 1.329043088975937e-3
allele num: 14296
num of homozygotes: 1

African
type: Population
allele count: 1
allele frequency: 1.099868015838099e-4
allele num: 9092
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
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European (Non-Finnish)
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allele count: 12
allele frequency: 2.137818000427564e-4
allele num: 56132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.897e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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QD
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MQRankSum
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SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 1.327629e6

BaseQRankSum
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SIO_000300: -1.284e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56400
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

East Asian
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allele frequency: 1.244090569793481e-4
allele num: 8038
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
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SIO_000300: 6.028e1

ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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QD
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DP
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GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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East Asian
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European (Finnish)
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.663450662053363e-5
allele num: 60116
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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QD
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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SIO_000300: 1.68e0

GenotypeDepth
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variant carriers: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 1.194457716196847e-4
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African
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 3.152585119798235e-4
allele num: 6344
num of homozygotes: 0

Latino
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.060185940303376e-3
allele num: 61310
num of homozygotes: 0

Other
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MQ
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SIO_000300: 5.933e1

BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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FS
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DP
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15010
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.630310737226516e-5
allele num: 61338
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

East Asian
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FS
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MQRankSum
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 61384
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DP
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 61376
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.648936170212766e-5
allele num: 15040
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 61348
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 2.58e-1

MQRankSum
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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SIO_000300: -9.58e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.262004175365344e-5
allele num: 61312
num of homozygotes: 0

East Asian
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allele num: 8414
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.113271344040575e-4
allele num: 9464
num of homozygotes: 0

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

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: -8.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

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

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

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

Latino
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allele num: 10622
num of homozygotes: 0

African
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num of homozygotes: 0

Other
type: Population
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DP
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SIO_000300: 1.417171e6

ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-3

VQSLOD
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MQ
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SIO_000300: 5.909e1

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
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num of homozygotes: 0

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

African
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allele num: 9366
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.1e-3

MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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FS
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QD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele num: 14818
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 59432
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 6270
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 14700
num of homozygotes: 0

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

Latino
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Other
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54764
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.006238679814852e-4
allele num: 9938
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

DP
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SIO_000300: 1.287537e6

VQSLOD
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QD
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SIO_000300: 4.26e0

MQRankSum
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InbreedingCoeff
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SIO_000300: -2.5e-3

FS
type: SiteQuality
SIO_000300: 1.849e0

BaseQRankSum
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SIO_000300: -1.563e0

GenotypeDepth
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bin: 4.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52644
num of homozygotes: 0

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

Latino
type: Population
allele count: 27
allele frequency: 2.833158447009444e-3
allele num: 9530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.146788990825688e-4
allele num: 8720
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.227162e6

FS
type: SiteQuality
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QD
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SIO_000300: 1.238e1

MQ
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VQSLOD
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ReadPosRankSum
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SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

BaseQRankSum
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SIO_000300: -2.304e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 922
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6896
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.07090788601723e-5
allele num: 48288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 9.397e0

MQRankSum
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SIO_000300: -6.16e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 1.102574e6

VQSLOD
type: SiteQuality
SIO_000300: -2.415e-1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2256
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 493
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.304268393954493e-5
allele num: 48168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
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SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.092185e6

InbreedingCoeff
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SIO_000300: -4.6e-3

ReadPosRankSum
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SIO_000300: 6.64e-1

FS
type: SiteQuality
SIO_000300: 1.796e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

QD
type: SiteQuality
SIO_000300: 1.485e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 898
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.254594962559564e-5
allele num: 47008
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.468999999999999e0

QD
type: SiteQuality
SIO_000300: 1.555e1

InbreedingCoeff
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SIO_000300: -5.2e-3

DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 136

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.5004500450045e-5
allele num: 44440
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12944
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.114137162664026e-3
allele num: 8078
num of homozygotes: 0

African
type: Population
allele count: 132
allele frequency: 1.712062256809339e-2
allele num: 7710
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
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InbreedingCoeff
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SIO_000300: -1.6e-3

ClippingRankSum
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SIO_000300: 9.9e-2

VQSLOD
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BaseQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1759
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.411381721726549e-5
allele num: 41470
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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QD
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37618
num of homozygotes: 0

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

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

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

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 3.524850193866761e-4
allele num: 5674
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Other
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.26e-2

DP
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FS
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QD
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele frequency: 0.0e0
allele num: 4810
num of homozygotes: 0

East Asian
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Other
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num of homozygotes: 0

Latino
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South Asian
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allele frequency: 1.154163231657049e-3
allele num: 12130
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.657e0

VQSLOD
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BaseQRankSum
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SIO_000300: 3.72e-1

MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4472
num of homozygotes: 0

East Asian
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Other
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num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

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

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

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

East Asian
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Other
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South Asian
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allele num: 5224
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MQRankSum
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SIO_000300: -2.219e0

InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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QD
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GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 494
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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African
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East Asian
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European (Non-Finnish)
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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Other
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East Asian
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European (Finnish)
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South Asian
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QD
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VQSLOD
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

European (Non-Finnish)
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num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1715
bin: 2.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.577319587628866e-3
allele num: 388
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.788e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
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SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 3.84954e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.288e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 7.83e0

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

African
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allele count: 1
allele frequency: 3.396739130434783e-4
allele num: 2944
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2356
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
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SIO_000300: -1.54e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -2.684e0

FS
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SIO_000300: 5.911e0

BaseQRankSum
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SIO_000300: -1.599e0

DP
type: SiteQuality
SIO_000300: 6.36448e5

QD
type: SiteQuality
SIO_000300: 9.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12580
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GenotypeQuality
all individuals: 328
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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 2.944640753828033e-4
allele num: 6792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2778
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.95873e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.1e-2

ReadPosRankSum
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VQSLOD
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SIO_000300: -2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 542
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4449
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37114
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.190100744634253e-4
allele num: 9132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4444
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.601456815816858e-4
allele num: 3844
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 9.52e0

ReadPosRankSum
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SIO_000300: -5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.569e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 9.31647e5

QD
type: SiteQuality
SIO_000300: 1.654e1

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 542
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variant carriers: 3

GenotypeQuality
all individuals: 199
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.28515111695138e-4
allele num: 9132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37114
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4444
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QD
type: SiteQuality
SIO_000300: 1.654e1

VQSLOD
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SIO_000300: -7.569e-1

DP
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SIO_000300: 9.31647e5

ReadPosRankSum
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SIO_000300: -5.659999999999999e-1

ClippingRankSum
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SIO_000300: 3.22e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 9.52e0

BaseQRankSum
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SIO_000300: 2.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 119
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.32890365448505e-4
allele num: 60200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10958
num of homozygotes: 0

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

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

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

African
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MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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FS
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11026
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.664889362836577e-5
allele num: 15004
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6901
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

African
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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Other
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DP
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

South Asian
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Latino
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 65664
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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African
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South Asian
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Latino
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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Latino
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African
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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MQ
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FS
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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African
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European (Non-Finnish)
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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