22-19709752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709752
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709752
    reference: chr 22
allele count: 1
allele frequency: 2.129925452609159e-5
allele num: 46950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.967-8C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.720C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.951-8C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.940-8C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.978-8C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.978-8C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*107-8C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.810-8C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.810-8C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
hgvs: c.951-8C>T
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

22-19709755-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709755
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709755
    reference: chr 22
allele count: 2
allele frequency: 3.856388106899079e-5
allele num: 51862
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.951-5C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*107-5C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.940-5C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.978-5C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.978-5C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.723C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.967-5C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.810-5C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.810-5C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11485
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9523
  bin: 6.25e1
  variant carriers: 0
hgvs: c.951-5C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

22-19709763-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709763
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709763
    reference: chr 22
allele count: 2
allele frequency: 3.021421881137263e-5
allele num: 66194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*110A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.970A>G
  hgvsp: ENSP00000394541.2:p.Thr324Ala
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.981A>G
  hgvsp: ENST00000383045.3:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.943A>G
  hgvsp: ENSP00000384535.1:p.Thr315Ala
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.813A>G
  hgvsp: ENST00000412544.1:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.954A>G
  hgvsp: ENST00000455784.2:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.981A>G
  hgvsp: ENST00000455843.1:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.813A>G
  hgvsp: ENST00000431044.1:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.731A>G
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr324Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS

22-19709766-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709766
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709766
    reference: chr 22
allele count: 4
allele frequency: 5.806695119472752e-5
allele num: 68886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.973G>C
  hgvsp: ENSP00000394541.2:p.Asp325His
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.734G>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.957G>C
  hgvsp: ENST00000455784.2:c.957G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.984G>C
  hgvsp: ENST00000455843.1:c.984G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.984G>C
  hgvsp: ENST00000383045.3:c.984G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.816G>C
  hgvsp: ENST00000431044.1:c.816G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.946G>C
  hgvsp: ENSP00000384535.1:p.Asp316His
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*113G>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.816G>C
  hgvsp: ENST00000412544.1:c.816G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20904
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp325His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

22-19709772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709772
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709772
    reference: chr 22
allele count: 1
allele frequency: 1.337506353155177e-5
allele num: 74766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.963G>A
  hgvsp: ENST00000455784.2:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.740G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.952G>A
  hgvsp: ENSP00000384535.1:p.Gly318Arg
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.822G>A
  hgvsp: ENST00000431044.1:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.990G>A
  hgvsp: ENST00000383045.3:c.990G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.990G>A
  hgvsp: ENST00000455843.1:c.990G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.822G>A
  hgvsp: ENST00000412544.1:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.979G>A
  hgvsp: ENSP00000394541.2:p.Gly327Arg
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*119G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly327Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

22-19709776-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709776
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709776
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 78176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*123A>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.826A>T
  hgvsp: ENSP00000408678.1:p.Ser276Cys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.967A>T
  hgvsp: ENSP00000391311.2:p.Ser323Cys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.994A>T
  hgvsp: ENSP00000391731.1:p.Ser332Cys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.744A>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.983A>T
  hgvsp: ENSP00000394541.2:p.Gln328Leu
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.826A>T
  hgvsp: ENSP00000399685.1:p.Ser276Cys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.956A>T
  hgvsp: ENSP00000384535.1:p.Gln319Leu
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.994A>T
  hgvsp: ENSP00000372515.3:p.Ser332Cys
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18811
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser323Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

22-19709783-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709783
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709783
    reference: chr 22
allele count: 2
allele frequency: 2.349072116513977e-5
allele num: 85140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.751T>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.974T>A
  hgvsp: ENSP00000391311.2:p.Met325Lys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1001T>A
  hgvsp: ENSP00000391731.1:p.Met334Lys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1001T>A
  hgvsp: ENSP00000372515.3:p.Met334Lys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.990T>A
  hgvsp: ENSP00000394541.2:p.His330Gln
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*130T>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.833T>A
  hgvsp: ENSP00000408678.1:p.Met278Lys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.833T>A
  hgvsp: ENSP00000399685.1:p.Met278Lys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.963T>A
  hgvsp: ENSP00000384535.1:p.His321Gln
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met325Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

22-19709787-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709787
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709787
    reference: chr 22
allele count: 1
allele frequency: 1.140745134722e-5
allele num: 87662
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.978G>C
  hgvsp: ENSP00000391311.2:p.Glu326Asp
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.837G>C
  hgvsp: ENSP00000399685.1:p.Glu279Asp
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.755G>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*134G>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.967G>C
  hgvsp: ENSP00000384535.1:p.Glu323Gln
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.837G>C
  hgvsp: ENSP00000408678.1:p.Glu279Asp
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.994G>C
  hgvsp: ENSP00000394541.2:p.Glu332Gln
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1005G>C
  hgvsp: ENSP00000372515.3:p.Glu335Asp
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1005G>C
  hgvsp: ENSP00000391731.1:p.Glu335Asp
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14527
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu326Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-19709799-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709799
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709799
    reference: chr 22
allele count: 1
allele frequency: 1.065439280615398e-5
allele num: 93858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1017G>T
  hgvsp: ENST00000455843.1:c.1017G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1017G>T
  hgvsp: ENST00000383045.3:c.1017G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.849G>T
  hgvsp: ENST00000431044.1:c.849G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.979G>T
  hgvsp: ENSP00000384535.1:p.Asp327Tyr
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.767G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.1006G>T
  hgvsp: ENSP00000394541.2:p.Asp336Tyr
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.849G>T
  hgvsp: ENST00000412544.1:c.849G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.990G>T
  hgvsp: ENST00000455784.2:c.990G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*146G>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp336Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

22-19709802-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709802
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709802
    reference: chr 22
allele count: 1
allele frequency: 1.041731774902598e-5
allele num: 95994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1020C>G
  hgvsp: ENSP00000391731.1:p.Ile340Met
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.852C>G
  hgvsp: ENSP00000399685.1:p.Ile284Met
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1020C>G
  hgvsp: ENSP00000372515.3:p.Ile340Met
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.852C>G
  hgvsp: ENSP00000408678.1:p.Ile284Met
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.1009C>G
  hgvsp: ENSP00000394541.2:p.Pro337Ala
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.993C>G
  hgvsp: ENSP00000391311.2:p.Ile331Met
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*149C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.982C>G
  hgvsp: ENSP00000384535.1:p.Pro328Ala
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.770C>G
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile331Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

22-19709808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709808
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709808
    reference: chr 22
allele count: 1
allele frequency: 1.018226249872722e-5
allele num: 98210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.858G>A
  hgvsp: ENST00000412544.1:c.858G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1026G>A
  hgvsp: ENST00000383045.3:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.999G>A
  hgvsp: ENST00000455784.2:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*155G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.988G>A
  hgvsp: ENSP00000384535.1:p.Ala330Thr
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.1015G>A
  hgvsp: ENSP00000394541.2:p.Ala339Thr
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1026G>A
  hgvsp: ENST00000455843.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.858G>A
  hgvsp: ENST00000431044.1:c.858G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.776G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala339Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

22-19709814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709814
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709814
    reference: chr 22
allele count: 1
allele frequency: 1.013397109791443e-5
allele num: 98678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.1021C>T
  hgvsp: ENSP00000394541.2:p.His341Tyr
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*161C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.994C>T
  hgvsp: ENSP00000384535.1:p.His332Tyr
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1032C>T
  hgvsp: ENST00000383045.3:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.864C>T
  hgvsp: ENST00000431044.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1032C>T
  hgvsp: ENST00000455843.1:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.864C>T
  hgvsp: ENST00000412544.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1005C>T
  hgvsp: ENST00000455784.2:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.782C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34886
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His341Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

22-19709815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709815
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709815
    reference: chr 22
allele count: 1
allele frequency: 1.015001725502933e-5
allele num: 98522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1033A>G
  hgvsp: ENSP00000391731.1:p.Thr345Ala
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.783A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.1022A>G
  hgvsp: ENSP00000394541.2:p.His341Arg
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*162A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.995A>G
  hgvsp: ENSP00000384535.1:p.His332Arg
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.865A>G
  hgvsp: ENSP00000408678.1:p.Thr289Ala
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1033A>G
  hgvsp: ENSP00000372515.3:p.Thr345Ala
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.865A>G
  hgvsp: ENSP00000399685.1:p.Thr289Ala
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1006A>G
  hgvsp: ENSP00000391311.2:p.Thr336Ala
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34393
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr336Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

22-19709823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709823
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709823
    reference: chr 22
allele count: 1
allele frequency: 1.018018935152194e-5
allele num: 98230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.1003C>T
  hgvsp: ENSP00000384535.1:p.Arg335Cys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1014C>T
  hgvsp: ENST00000455784.2:c.1014C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.873C>T
  hgvsp: ENST00000412544.1:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.1030C>T
  hgvsp: ENSP00000394541.2:p.Arg344Cys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*170C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1041C>T
  hgvsp: ENST00000455843.1:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.873C>T
  hgvsp: ENST00000431044.1:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1041C>T
  hgvsp: ENST00000383045.3:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.791C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31987
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg344Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

22-19709825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709825
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709825
    reference: chr 22
allele count: 1
allele frequency: 1.020949891779311e-5
allele num: 97948
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1016C>T
  hgvsp: ENSP00000391311.2:p.Ala339Val
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*172C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1043C>T
  hgvsp: ENSP00000391731.1:p.Ala348Val
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.1032C>T
  hgvsp: ENST00000438754.2:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1043C>T
  hgvsp: ENSP00000372515.3:p.Ala348Val
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.875C>T
  hgvsp: ENSP00000408678.1:p.Ala292Val
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.793C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.875C>T
  hgvsp: ENSP00000399685.1:p.Ala292Val
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.1005C>T
  hgvsp: ENST00000406395.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala339Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

22-19709838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709838
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709838
    reference: chr 22
allele count: 1
allele frequency: 1.043667028471237e-5
allele num: 95816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.888G>A
  hgvsp: ENST00000431044.1:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*185G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1029G>A
  hgvsp: ENST00000455784.2:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000408678
  ensembl transcript: ENST00000412544
  gene symbol: SEPT5
  hgvsc: ENST00000412544.1:c.888G>A
  hgvsp: ENST00000412544.1:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1056G>A
  hgvsp: ENST00000455843.1:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1056G>A
  hgvsp: ENST00000383045.3:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*4G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*4G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.806G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys343Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

22-19709859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709859
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709859
    reference: chr 22
allele count: 2
allele frequency: 2.291528220170031e-5
allele num: 87278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1077G>A
  hgvsp: ENST00000383045.3:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1077G>A
  hgvsp: ENST00000455843.1:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1050G>A
  hgvsp: ENST00000455784.2:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.909G>A
  hgvsp: ENST00000431044.1:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*206G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*25G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.827G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15954
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu350Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

22-19709868-T-TGGGGCGGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709868
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709877
    reference: chr 22
allele count: 1
allele frequency: 1.247785181303187e-5
allele num: 80142
alternate allele: TGGGGCGGCG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18994
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

22-19709868-TGGGGCGGCG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709868
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709859
    reference: chr 22
allele count: 1
allele frequency: 1.247785181303187e-5
allele num: 80142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1053+17_1053+25delGGGCGGCGG
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: TGGGGCGGCG
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

22-19709879-G-GGGCGGCGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709879
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709888
    reference: chr 22
allele count: 1
allele frequency: 1.439801883260863e-5
allele num: 69454
alternate allele: GGGCGGCGGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19729
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19332
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5630
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

22-19709879-GGGCGGCGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709879
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709870
    reference: chr 22
allele count: 4
allele frequency: 5.759207533043453e-5
allele num: 69454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19332
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19729
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5630
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: GGGCGGCGGA
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

22-19709880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709880
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709880
    reference: chr 22
allele count: 1
allele frequency: 1.530409231428484e-5
allele num: 65342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.830+18G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.912+18G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*227G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*28+18G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*28+18G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1053+18G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1080+18G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1080+18G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

22-19709881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709881
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709881
    reference: chr 22
allele count: 1
allele frequency: 1.527837193668643e-5
allele num: 65452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.912+19G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1080+19G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*28+19G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*228G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*28+19G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.830+19G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1053+19G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1080+19G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26598
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

22-19709883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709883
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709883
    reference: chr 22
allele count: 1
allele frequency: 1.604415351046079e-5
allele num: 62328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1053+21G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*28+21G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.830+21G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*28+21G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*230G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1080+21G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.912+21G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1080+21G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18081
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

22-19709896-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709896
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709896
    reference: chr 22
allele count: 2
allele frequency: 3.438316600192546e-5
allele num: 58168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1080+34G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*28+34G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.830+34G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*243G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1053+34G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*28+34G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1080+34G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.912+34G>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16263
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/22-19709899-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709899
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709899
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 57842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.830+37A>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*28+37A>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.912+37A>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*246A>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1080+37A>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*28+37A>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1080+37A>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1053+37A>C
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24299
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28866
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

22-19709902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709902
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709902
    reference: chr 22
allele count: 2
allele frequency: 3.494060097833683e-5
allele num: 57240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*249G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1053+40G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1080+40G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.830+40G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1080+40G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*28+40G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.912+40G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*28+40G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24555
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6449
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

22-19709906-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709906
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709906
    reference: chr 22
allele count: 3
allele frequency: 5.352172982230786e-5
allele num: 56052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1080+44C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*28+44C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1053+44C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1080+44C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*28+44C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*253C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.830+44C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.912+44C>G
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27348
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

22-19709906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709906
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709906
    reference: chr 22
allele count: 4
allele frequency: 7.136230642974381e-5
allele num: 56052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1080+44C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1080+44C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.912+44C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1053+44C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*28+44C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*253C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.830+44C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*28+44C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

22-19709909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709909
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709909
    reference: chr 22
allele count: 1
allele frequency: 1.812382195157315e-5
allele num: 55176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-42C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-42C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-42C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-42C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-42C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-42C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*256C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-42C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

22-19709909-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709909
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709908
    reference: chr 22
allele count: 32
allele frequency: 5.799623024503408e-4
allele num: 55176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-41delT
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-41delT
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-41delT
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-41delT
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*257delT
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-41delT
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-41delT
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-41delT
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15045
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25217
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

22-19709910-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709910
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709910
    reference: chr 22
allele count: 2
allele frequency: 3.630422944273008e-5
allele num: 55090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*257T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-41T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-41T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-41T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-41T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-41T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-41T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-41T>C
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

22-19709911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709911
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709911
    reference: chr 22
allele count: 1
allele frequency: 1.815277374382806e-5
allele num: 55088
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-40C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-40C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-40C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-40C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-40C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-40C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-40C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*258C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14925
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

22-19709912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709912
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709912
    reference: chr 22
allele count: 1
allele frequency: 1.828956031896993e-5
allele num: 54676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-39C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-39C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*259C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-39C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-39C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-39C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-39C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-39C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25493
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

22-19709917-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709917
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709917
    reference: chr 22
allele count: 11
allele frequency: 2.018496770405167e-4
allele num: 54496
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-34T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-34T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-34T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-34T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-34T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*264T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-34T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-34T>C
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26037
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

22-19709922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709922
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709922
    reference: chr 22
allele count: 7
allele frequency: 1.293374228594657e-4
allele num: 54122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-29C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-29C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-29C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-29C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-29C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*269C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-29C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-29C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26287
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14144
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6057
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

22-19709924-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709924
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709924
    reference: chr 22
allele count: 1
allele frequency: 1.85356811862836e-5
allele num: 53950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-27C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-27C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-27C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-27C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-27C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-27C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*271C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-27C>G
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14073
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28636
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

22-19709928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709928
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709928
    reference: chr 22
allele count: 19
allele frequency: 3.498821449616971e-4
allele num: 54304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-23C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-23C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-23C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-23C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-23C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-23C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-23C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*275C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26724
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13851
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29879
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

22-19709932-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709932
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709932
    reference: chr 22
allele count: 15
allele frequency: 2.746850278347495e-4
allele num: 54608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*279G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-19G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-19G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-19G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-19G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-19G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-19G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-19G>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13353
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27123
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

22-19709939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709939
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709939
    reference: chr 22
allele count: 1
allele frequency: 1.807076511619502e-5
allele num: 55338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-12C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-12C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-12C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-12C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-12C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*286C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-12C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-12C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4643
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

22-19709940-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709940
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709940
    reference: chr 22
allele count: 1
allele frequency: 1.807925947353196e-5
allele num: 55312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-11T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-11T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-11T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*287T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-11T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-11T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-11T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-11T>C
  variant of: http://identifiers.org/hgnc/9164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12630
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

22-19709947-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709947
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709947
    reference: chr 22
allele count: 1
allele frequency: 1.790959237767748e-5
allele num: 55836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*29-4G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1081-4G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*29-4G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1081-4G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.831-4G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.913-4G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*294G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1054-4G>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1054-4G>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

22-19709953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709953
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709953
    reference: chr 22
allele count: 1
allele frequency: 1.767908917332579e-5
allele num: 56564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*31G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*31G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.915G>A
  hgvsp: ENST00000431044.1:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.833G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1083G>A
  hgvsp: ENST00000455843.1:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*300G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1056G>A
  hgvsp: ENST00000455784.2:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1083G>A
  hgvsp: ENST00000383045.3:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1056G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-19709955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709955
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709955
    reference: chr 22
allele count: 1
allele frequency: 1.77072635194957e-5
allele num: 56474
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1058G>A
  hgvsp: ENSP00000391311.2:p.Arg353Lys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.917G>A
  hgvsp: ENSP00000399685.1:p.Arg306Lys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.835G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1085G>A
  hgvsp: ENSP00000372515.3:p.Arg362Lys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1085G>A
  hgvsp: ENSP00000391731.1:p.Arg362Lys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*33G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*33G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*302G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31908
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg353Lys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

22-19709957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709957
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709957
    reference: chr 22
allele count: 2
allele frequency: 3.538570417551309e-5
allele num: 56520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1087C>T
  hgvsp: ENSP00000372515.3:p.Arg363Cys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.919C>T
  hgvsp: ENSP00000399685.1:p.Arg307Cys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*304C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1087C>T
  hgvsp: ENSP00000391731.1:p.Arg363Cys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*35C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1060C>T
  hgvsp: ENSP00000391311.2:p.Arg354Cys
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.837C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg354Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

22-19709962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19709962
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19709962
    reference: chr 22
allele count: 2
allele frequency: 3.521002781592197e-5
allele num: 56802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*40G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*309G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1092G>A
  hgvsp: ENSP00000391731.1:p.Met364Ile
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.842G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.924G>A
  hgvsp: ENSP00000399685.1:p.Met308Ile
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1065G>A
  hgvsp: ENSP00000391311.2:p.Met355Ile
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1092G>A
  hgvsp: ENSP00000372515.3:p.Met364Ile
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27600
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32128
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met355Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

22-19710003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710003
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710003
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 50190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.1133A>G
  hgvsp: ENSP00000372515.3:p.Gln378Arg
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.1133A>G
  hgvsp: ENSP00000391731.1:p.Gln378Arg
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.965A>G
  hgvsp: ENSP00000399685.1:p.Gln322Arg
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*81A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*350A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.883A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.1106A>G
  hgvsp: ENSP00000391311.2:p.Gln369Arg
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*81A>G
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26762
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7994
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln369Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

22-19710008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710008
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710008
    reference: chr 22
allele count: 1
allele frequency: 2.101723413198823e-5
allele num: 47580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*86C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*1C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*86C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*1C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.888C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*355C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

22-19710009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710009
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710009
    reference: chr 22
allele count: 1
allele frequency: 2.12630236019562e-5
allele num: 47030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*356G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*87G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*2G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*87G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*2G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.889G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26076
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9958
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

22-19710012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710012
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710012
    reference: chr 22
allele count: 1
allele frequency: 2.155451135922749e-5
allele num: 46394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*5C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*5C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*359C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*90C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.892C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

22-19710013-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710013
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710013
    reference: chr 22
allele count: 1
allele frequency: 2.186365822729459e-5
allele num: 45738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*360G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*6G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*91G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*6G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*91G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.893G>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10821
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-19710018-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710018
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710018
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 43664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*11G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.898G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*11G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*11G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*365G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*96G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*96G>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*11G>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25032
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-19710024-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710024
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710023
    reference: chr 22
allele count: 4
allele frequency: 9.784257130277384e-5
allele num: 40882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*373delC
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*19delC
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*19delC
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*104delC
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*19delC
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*104delC
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.906delC
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*19delC
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23633
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: AC
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

22-19710026-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710026
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710026
    reference: chr 22
allele count: 2
allele frequency: 5.263711969681019e-5
allele num: 37996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*19C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*19C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*19C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*104C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.906C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*373C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*19C>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*104C>G
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

22-19710026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710026
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710026
    reference: chr 22
allele count: 1
allele frequency: 2.63185598484051e-5
allele num: 37996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*104C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*19C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.906C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*373C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22892
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17049
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

22-19710031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710031
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710031
    reference: chr 22
allele count: 1
allele frequency: 2.769469369668771e-5
allele num: 36108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.911G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*24G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*24G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*378G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*109G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

22-19710044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710044
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710044
    reference: chr 22
allele count: 5
allele frequency: 1.894226397939082e-4
allele num: 26396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*37C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*37C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*122C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.924C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*122C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*391C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22439
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22200
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12560
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

22-19710047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710047
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710047
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 25870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*125C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*40C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.927C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*394C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*125C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*40C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22618
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6704
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4864
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

22-19710051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710051
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710051
    reference: chr 22
allele count: 2
allele frequency: 8.318083513558476e-5
allele num: 24044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000372515
  ensembl transcript: ENST00000383045
  gene symbol: SEPT5
  hgvsc: ENST00000383045.3:c.*44C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*129C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.931C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*398C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*44C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7368
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

22-19710716-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710716
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710716
    reference: chr 22
allele count: 2
allele frequency: 1.852537977028529e-4
allele num: 10796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*709A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1063A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*794A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-377A>G
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*709A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*709A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*794A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1596A>G
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-19710724-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710724
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710724
    reference: chr 22
allele count: 1
allele frequency: 9.266123054114158e-5
allele num: 10792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*802C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-369C>A
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*802C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1071C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*717C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*717C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1604C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*717C>A
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

22-19710734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710734
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710734
    reference: chr 22
allele count: 1
allele frequency: 9.267840593141798e-5
allele num: 10790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*727C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*812C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*727C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*727C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1614C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1081C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-359C>T
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*812C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/22-19710735-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710735
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710735
    reference: chr 22
allele count: 7
allele frequency: 6.487488415199259e-4
allele num: 10790
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-358C>A
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1615C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*813C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*728C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1082C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*728C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*813C>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*728C>A
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

22-19710758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710758
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710758
    reference: chr 22
allele count: 1
allele frequency: 9.269558769002595e-5
allele num: 10788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*836C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1638C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*751C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*836C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-335C>T
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*751C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1105C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*751C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

22-19710782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710782
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710782
    reference: chr 22
allele count: 1
allele frequency: 9.25240562546262e-5
allele num: 10808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000384535
  ensembl transcript: ENST00000406395
  gene symbol: SEPT5
  hgvsc: ENST00000406395.1:c.*860T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*775T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*860T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*775T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-311T>C
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*775T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1129T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1662T>C
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

22-19710805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710805
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710805
    reference: chr 22
allele count: 13
allele frequency: 1.203035350731075e-3
allele num: 10806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*798C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1152C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*883C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*798C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-288C>T
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1685C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*798C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

22-19710810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710810
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710810
    reference: chr 22
allele count: 3
allele frequency: 2.775721687638786e-4
allele num: 10808
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*803C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1690C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*888C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-283C>T
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*803C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1157C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*803C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

22-19710823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710823
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710823
    reference: chr 22
allele count: 1
allele frequency: 9.247272054743851e-5
allele num: 10814
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-270G>A
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1170G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1703G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*816G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*901G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*816G>A
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*816G>A
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

22-19710828-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710828
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710828
    reference: chr 22
allele count: 1
allele frequency: 9.242144177449168e-5
allele num: 10820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*906A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1175A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*821A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*821A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*821A>G
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-265A>G
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1708A>G
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

22-19710829-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710829
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710829
    reference: chr 22
allele count: 1
allele frequency: 9.240436148586214e-5
allele num: 10822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*822T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000385356
  ensembl transcript: ENST00000406172
  gene symbol: SEPT5
  hgvsc: ENST00000406172.2:c.*1176T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*822T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000394541
  ensembl transcript: ENST00000438754
  gene symbol: SEPT5
  hgvsc: ENST00000438754.2:c.*907T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-264T>C
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391311
  ensembl transcript: ENST00000455784
  gene symbol: SEPT5
  hgvsc: ENST00000455784.2:c.*822T>C
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1709T>C
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4787
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

22-19710844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19710844
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 19710844
    reference: chr 22
allele count: 6
allele frequency: 5.542213190467394e-4
allele num: 10826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000399685
  ensembl transcript: ENST00000431044
  gene symbol: SEPT5
  hgvsc: ENST00000431044.1:c.*837C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184702
  ensembl protein: ENSP00000391731
  ensembl transcript: ENST00000455843
  gene symbol: SEPT5
  hgvsc: ENST00000455843.1:c.*837C>T
  variant of: http://identifiers.org/hgnc/9164
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000203618
  ensembl protein: ENSP00000383382
  ensembl transcript: ENST00000366425
  gene symbol: GP1BB
  hgvsc: ENST00000366425.3:c.-249C>T
  variant of: http://identifiers.org/hgnc/4440
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184702
  ensembl transcript: ENST00000470814
  gene symbol: SEPT5
  hgvsc: ENST00000470814.1:n.1724C>T
  variant of: http://identifiers.org/hgnc/9164
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 730
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5809
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.902895948794005e-5
allele num: 25622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3116
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

FS
type: SiteQuality
SIO_000300: 2.013e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 6.33691e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 787
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3883
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30372
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.147842056932966e-4
allele num: 8712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.531322833533442e-5
allele num: 28318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5334
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.82926e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 25548
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.545389009038984e-5
allele num: 36066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

QD
type: SiteQuality
SIO_000300: 7.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

DP
type: SiteQuality
SIO_000300: 8.25634e5

VQSLOD
type: SiteQuality
SIO_000300: -1.576e-1

FS
type: SiteQuality
SIO_000300: 1.439e0

GenotypeQuality
all individuals: 106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.400560224089636e-4
allele num: 7140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.988071147087016e-5
allele num: 37556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.827e1

DP
type: SiteQuality
SIO_000300: 8.54207e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 9.416e0

VQSLOD
type: SiteQuality
SIO_000300: -1.485e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2492
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.987281399046105e-4
allele num: 5032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.7e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 9.15961e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 2.363e0

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.872e0

VQSLOD
type: SiteQuality
SIO_000300: -2.339e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 25634
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.054e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 9.47071e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6888
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.402517863218782e-4
allele num: 5878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46756
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 7.278e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.018162e6

QD
type: SiteQuality
SIO_000300: 1.037e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.074344507135745e-5
allele num: 48208
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.86e0

QD
type: SiteQuality
SIO_000300: 9.09e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51718
num of homozygotes: 0

Latino
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: 632
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.519756838905775e-4
allele num: 6580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.110599e6

MQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

QD
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SIO_000300: 8.140000000000001e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3764
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
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.88800362496696e-5
allele num: 52966
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14312
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

FS
type: SiteQuality
SIO_000300: 3.014e0

DP
type: SiteQuality
SIO_000300: 1.134115e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.952e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.0e-4
allele num: 10000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54178
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3976
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.5762e1

QD
type: SiteQuality
SIO_000300: 1.99e0

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.419e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.021e0

DP
type: SiteQuality
SIO_000300: 1.160496e6

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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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.83614263155962e-5
allele num: 54462
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.082e0

DP
type: SiteQuality
SIO_000300: 1.162548e6

QD
type: SiteQuality
SIO_000300: 6.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.071e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3376
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837897445322551e-5
allele num: 54410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14540
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.712e1

FS
type: SiteQuality
SIO_000300: 3.106e0

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

VQSLOD
type: SiteQuality
SIO_000300: -1.217e0

DP
type: SiteQuality
SIO_000300: 1.160488e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 819
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7122
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.488095238095238e-3
allele num: 672
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.144852e6

QD
type: SiteQuality
SIO_000300: 4.89e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.553e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.473e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.847814035995417e-5
allele num: 54118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.137354e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.909e0

VQSLOD
type: SiteQuality
SIO_000300: -1.644e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.859e1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

East Asian
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: 14298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3804
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.891932798546996e-5
allele num: 52856
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.413e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 2
allele frequency: 3.138731952291275e-4
allele num: 6372
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 47920
num of homozygotes: 0

East Asian
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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

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

Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.31349e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
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variant carriers: 0

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

African
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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
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.294314688202634e-5
allele num: 43586
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.411e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 8.2874e5

QD
type: SiteQuality
SIO_000300: 5.16e0

GenotypeQuality
all individuals: 432
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13162
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.629195177582274e-4
allele num: 6138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43586
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQ
type: SiteQuality
SIO_000300: 5.411e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 8.2874e5

QD
type: SiteQuality
SIO_000300: 5.16e0

GenotypeQuality
all individuals: 553
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 551
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5044
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.080155138978668e-5
allele num: 12376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6824
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 6.02e0

FS
type: SiteQuality
SIO_000300: 7.08e-1

DP
type: SiteQuality
SIO_000300: 7.37132e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

GenotypeQuality
all individuals: 90
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 2109
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.930214115781126e-4
allele num: 5044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6824
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.303e1

DP
type: SiteQuality
SIO_000300: 7.37132e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 6.02e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 253
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.560549313358302e-4
allele num: 6408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1866
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.564e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 7.18223e5

QD
type: SiteQuality
SIO_000300: 1.668e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 626
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.250825082508251e-5
allele num: 12120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4866
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.273e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

DP
type: SiteQuality
SIO_000300: 7.17091e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

QD
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 411
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 1

GenotypeQuality
all individuals: 755
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33242
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.443093549476529e-5
allele num: 11844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 7.05153e5

GenotypeQuality
all individuals: 278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
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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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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
all individuals: 1906
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.236036502491748e-5
allele num: 30902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.818181818181818e-4
allele num: 5500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1432
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -1.461e-1

DP
type: SiteQuality
SIO_000300: 6.81245e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

QD
type: SiteQuality
SIO_000300: 9.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 41
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

FS
type: SiteQuality
SIO_000300: 1.5355e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.104e1

DP
type: SiteQuality
SIO_000300: 6.80326e5

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 265
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GenotypeQuality
all individuals: 4022
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.483854942871336e-4
allele num: 4026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1376
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.347417840375587e-4
allele num: 4260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 6.76935e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

QD
type: SiteQuality
SIO_000300: 1.522e1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

FS
type: SiteQuality
SIO_000300: 1.356e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 532
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 576
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.012487343908201e-4
allele num: 29630
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 6.70935e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.333e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.749915626054674e-5
allele num: 29630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.752851711026616e-4
allele num: 4208
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.70935e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 611
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.413127413127413e-4
allele num: 4144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1296
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.98e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 6.67726e5

QD
type: SiteQuality
SIO_000300: 1.417e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 2.418e0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

GenotypeQuality
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bin: 2.75e1
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
all individuals: 129
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variant carriers: 39

GenotypeQuality
all individuals: 1047
bin: 6.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3764
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 6.998069498069498e-3
allele num: 4144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.920122887864823e-4
allele num: 5208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.873797085510036e-5
allele num: 29096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.418e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

DP
type: SiteQuality
SIO_000300: 6.67726e5

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
all individuals: 453
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4076
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.770851779706039e-4
allele num: 11294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29078
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

FS
type: SiteQuality
SIO_000300: 7.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

DP
type: SiteQuality
SIO_000300: 6.67034e5

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-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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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.439735828288387e-5
allele num: 29072
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

DP
type: SiteQuality
SIO_000300: 6.6842e5

FS
type: SiteQuality
SIO_000300: 1.768e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1280
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.937233630375823e-4
allele num: 5162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 6.6791e5

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 7.194e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 1.042e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 11
allele frequency: 9.840758633029164e-4
allele num: 11178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.112e1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 6.71521e5

GenotypeQuality
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bin: 1.75e1
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
all individuals: 98
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variant carriers: 7

GenotypeQuality
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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: 28581
bin: 2.25e1
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GenotypeQuality
all individuals: 6829
bin: 6.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.982553528945282e-4
allele num: 5044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.506065493303415e-5
allele num: 28522
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.206563706563707e-3
allele num: 4144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

FS
type: SiteQuality
SIO_000300: 1.874e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 6.73551e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

GenotypeQuality
all individuals: 573
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 2.5e0
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GenotypeQuality
all individuals: 1147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 92
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.518401238477236e-5
allele num: 28422
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5040
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

DP
type: SiteQuality
SIO_000300: 6.74652e5

FS
type: SiteQuality
SIO_000300: 3.492e0

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.533e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.375e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 221
bin: 5.75e1
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GenotypeQuality
all individuals: 116
bin: 9.75e1
variant carriers: 22

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28670
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 3.296703296703297e-3
allele num: 3640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 6.296096420219464e-4
allele num: 11118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

FS
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 6.86385e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1591
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5129
bin: 7.5e0
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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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variant carriers: 11

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 8785
bin: 6.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 3.794037940379404e-3
allele num: 3690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28840
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 6.99528e5

QD
type: SiteQuality
SIO_000300: 1.298e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

GenotypeQuality
all individuals: 1430
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
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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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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4252
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.653927813163482e-4
allele num: 3768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.459e0

MQRankSum
type: SiteQuality
SIO_000300: -1.246e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.663e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

DP
type: SiteQuality
SIO_000300: 7.14252e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.853e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.246e0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1828
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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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variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 388
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3766
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.013881377321075e-5
allele num: 11094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 9.853e0

VQSLOD
type: SiteQuality
SIO_000300: -2.433e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

DP
type: SiteQuality
SIO_000300: 7.15629e5

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 10720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
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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
all individuals: 594
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4145
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GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 334
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variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 439
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GenotypeQuality
all individuals: 308
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.369499292405148e-5
allele num: 29678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1358
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

QD
type: SiteQuality
SIO_000300: 1.232e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.35558e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
all individuals: 489
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 338
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variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.322038402763936e-5
allele num: 30102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e0

DP
type: SiteQuality
SIO_000300: 7.48435e5

QD
type: SiteQuality
SIO_000300: 2.125e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1531
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 96
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.583979328165374e-4
allele num: 3870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.367e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 5.674e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

FS
type: SiteQuality
SIO_000300: 1.455e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.944e-1

DP
type: SiteQuality
SIO_000300: 7.49705e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

GenotypeQuality
all individuals: 341
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
all individuals: 2011
bin: 3.25e1
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GenotypeQuality
all individuals: 306
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GenotypeQuality
all individuals: 32062
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1326
bin: 6.75e1
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GenotypeQuality
all individuals: 194
bin: 5.75e1
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GenotypeQuality
all individuals: 340
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4384
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.815211472136504e-4
allele num: 11018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

FS
type: SiteQuality
SIO_000300: 6.048e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 8.41e0

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 7.55594e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3832
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 97
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.587181345102431e-5
allele num: 30362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3876
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.221e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.583e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 7.61157e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3266
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.837e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 6.74106e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

QD
type: SiteQuality
SIO_000300: 4.99e0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 5.25e1
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GenotypeQuality
all individuals: 96
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3016
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.859988168014199e-5
allele num: 10142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.002000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

DP
type: SiteQuality
SIO_000300: 6.44966e5

GenotypeQuality
all individuals: 1301
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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
all individuals: 605
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variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3972
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.895111814763506e-5
allele num: 10106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4008
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.735e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.02e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 6.40867e5

QD
type: SiteQuality
SIO_000300: 3.21e0

GenotypeQuality
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10483
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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
all individuals: 96
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GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.122011541632317e-5
allele num: 24260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.339e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

DP
type: SiteQuality
SIO_000300: 6.33121e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

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

GenotypeQuality
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bin: 7.25e1
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
all individuals: 96
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variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.594706798131811e-4
allele num: 3854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

DP
type: SiteQuality
SIO_000300: 6.29156e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2686
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.294e0

DP
type: SiteQuality
SIO_000300: 6.04886e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

MQ
type: SiteQuality
SIO_000300: 5.843e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 3.402e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 4.775e0

VQSLOD
type: SiteQuality
SIO_000300: -3.822e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

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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variant carriers: 0

GenotypeQuality
all individuals: 5860
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GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.186728072011723e-4
allele num: 9554
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.098e0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

DP
type: SiteQuality
SIO_000300: 5.7411e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.04e-1

QD
type: SiteQuality
SIO_000300: 1.697e1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.88e-2

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
all individuals: 118
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variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.034233116144379e-4
allele num: 19338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2162
num of homozygotes: 0

Other
type: Population
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

South Asian
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allele frequency: 0.0e0
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DP
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SIO_000300: 5.54614e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
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MQRankSum
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InbreedingCoeff
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SIO_000300: 2.7e-2

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

QD
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VQSLOD
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SIO_000300: -1.601e0

ClippingRankSum
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SIO_000300: 2.71e-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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South Asian
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allele num: 9358
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 2894
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: 5.171165580721895e-5
allele num: 19338
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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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
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FS
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.501155242600946e-5
allele num: 18178
num of homozygotes: 0

South Asian
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 1364
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 12354
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Other
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num of homozygotes: 0

African
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allele frequency: 1.54320987654321e-3
allele num: 2592
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -4.25e-2

VQSLOD
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FS
type: SiteQuality
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DP
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SIO_000300: 4.67077e5

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 1300
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12018
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
type: SiteQuality
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MQ
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VQSLOD
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InbreedingCoeff
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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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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10908
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Latino
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East Asian
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Other
type: Population
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South Asian
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allele num: 8328
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DP
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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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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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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allele num: 7506
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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South Asian
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MQRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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ReadPosRankSum
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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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VQSLOD
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ClippingRankSum
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DP
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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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European (Finnish)
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East Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 2.18978102189781e-3
allele num: 2740
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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MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

DP
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SIO_000300: 1.65872e5

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

South Asian
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allele frequency: 0.0e0
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Other
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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: NaN
allele num: 0
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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 frequency: 3.654970760233918e-4
allele num: 2736
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 2
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South Asian
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allele frequency: 1.332267519317879e-4
allele num: 7506
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African
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

BaseQRankSum
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DP
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SIO_000300: 1.67597e5

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
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SIO_000300: -1.94e-1

QD
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InbreedingCoeff
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SIO_000300: -5.25e-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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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 frequency: 7.993605115907274e-4
allele num: 7506
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.184996358339403e-3
allele num: 2746
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 4.901960784313725e-3
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Other
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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DP
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SIO_000300: 1.69788e5

ClippingRankSum
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SIO_000300: -1.5e-2

QD
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SIO_000300: 1.279e1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

South Asian
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allele frequency: 3.995737879595098e-4
allele num: 7508
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2748
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.868e0

ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.68134e5

MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.285e0

QD
type: SiteQuality
SIO_000300: 2.36e1

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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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 4.629629629629629e-3
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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