22-29924433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924433
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924433
    reference: chr 22
allele count: 12
allele frequency: 9.968267681214799e-5
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.948C>T
  hgvsp: ENST00000490103.1:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.981C>T
  hgvsp: ENST00000442555.1:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.948C>T
  hgvsp: ENST00000397871.1:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*803C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.948C>T
  hgvsp: ENST00000397872.1:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.216C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.489C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6786C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.559C>T
  hgvsp: ENST00000443089.1:c.559C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.948C>T
  hgvsp: ENST00000397873.2:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4467
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala316Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

22-29924442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924442
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924442
    reference: chr 22
allele count: 6
allele frequency: 4.988526389304599e-5
allele num: 120276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6777C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*794C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.939C>T
  hgvsp: ENST00000397873.2:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.480C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.939C>T
  hgvsp: ENST00000397872.1:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.207C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.972C>T
  hgvsp: ENST00000442555.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.939C>T
  hgvsp: ENST00000490103.1:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.550C>T
  hgvsp: ENST00000443089.1:c.550C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.939C>T
  hgvsp: ENST00000397871.1:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp313Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

22-29924451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924451
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924451
    reference: chr 22
allele count: 8
allele frequency: 6.657567990413102e-5
allele num: 120164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.198C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6768C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.930C>T
  hgvsp: ENST00000490103.1:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.930C>T
  hgvsp: ENST00000397873.2:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.471C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.930C>T
  hgvsp: ENST00000397872.1:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.541C>T
  hgvsp: ENST00000443089.1:c.541C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.963C>T
  hgvsp: ENST00000442555.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.930C>T
  hgvsp: ENST00000397871.1:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*785C>T
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp310Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

22-29924462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924462
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924462
    reference: chr 22
allele count: 1
allele frequency: 8.332222370350619e-6
allele num: 120016
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.926-7G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.194-7G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.926-7G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.537-7G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*781-7G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6757G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.467-7G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.959-7G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.926-7G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.926-7G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
hgvs: c.926-7G>A
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

22-29924469-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924469
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924469
    reference: chr 22
allele count: 1
allele frequency: 8.336112037345782e-6
allele num: 119960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*781-14C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.926-14C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.959-14C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.467-14C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.926-14C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6750C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.194-14C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.926-14C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.537-14C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.926-14C>G
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

22-29924478-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924478
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924477
    reference: chr 22
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.537-24delG
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.959-24delG
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.926-24delG
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.194-24delG
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*781-24delG
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.926-24delG
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.926-24delG
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.926-24delG
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6740delG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.467-24delG
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8531
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: GC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

22-29924480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924480
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924480
    reference: chr 22
allele count: 2
allele frequency: 1.669783596045953e-5
allele num: 119776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.926-25A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.926-25A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.926-25A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.194-25A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.959-25A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*781-25A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6739A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.467-25A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.537-25A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.926-25A>G
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

22-29924481-AGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924481
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924478
    reference: chr 22
allele count: 582
allele frequency: 4.858340150591849e-3
allele num: 119794
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.926-29_926-27delCTC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.926-29_926-27delCTC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.537-29_537-27delCTC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.959-29_959-27delCTC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.926-29_926-27delCTC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.926-29_926-27delCTC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6735_161+6737delCTC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.467-29_467-27delCTC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*781-29_*781-27delCTC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.194-29_194-27delCTC
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10139
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27869
  bin: 9.75e1
  variant carriers: 569
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 12
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: AGAG
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/22-29924488-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924488
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924488
    reference: chr 22
allele count: 2
allele frequency: 1.671737604065666e-5
allele num: 119636
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.926-33T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.194-33T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.467-33T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.926-33T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.926-33T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.926-33T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*781-33T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.959-33T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.537-33T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6731T>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

22-29924492-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924492
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924492
    reference: chr 22
allele count: 3
allele frequency: 2.508948583280367e-5
allele num: 119572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.959-37C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.467-37C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.926-37C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.926-37C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.926-37C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.537-37C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*781-37C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6727C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.194-37C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.926-37C>A
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

22-29924494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29924494
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29924494
    reference: chr 22
allele count: 2
allele frequency: 1.672912205567452e-5
allele num: 119552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.537-39G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.926-39G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*781-39G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.467-39G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.926-39G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.926-39G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6725G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.959-39G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.194-39G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.926-39G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27746
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

22-29925101-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925101
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925101
    reference: chr 22
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+50A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+50A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+50A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+50A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6118A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+50A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+50A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*605A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+50A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+50A>G
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

22-29925114-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925114
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925114
    reference: chr 22
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+37C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+37C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+37C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+37C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+37C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+37C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*592C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6105C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+37C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+37C>G
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-29925126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925126
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925126
    reference: chr 22
allele count: 3
allele frequency: 2.47222863170386e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+25C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+25C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+25C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*580C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+25C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+25C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+25C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6093C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+25C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+25C>T
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

22-29925129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925129
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925129
    reference: chr 22
allele count: 76
allele frequency: 6.263288885958695e-4
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6090G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+22G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+22G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+22G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+22G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+22G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*577G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+22G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+22G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+22G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37202
  bin: 9.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 2
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

22-29925130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925130
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925130
    reference: chr 22
allele count: 8
allele frequency: 6.591849178490796e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+21C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+21C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+21C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+21C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*576C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6089C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+21C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+21C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+21C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+21C>T
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

22-29925133-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925133
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925133
    reference: chr 22
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+18A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*573A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+18A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+18A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+18A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6086A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+18A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+18A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+18A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+18A>G
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-29925134-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925134
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925134
    reference: chr 22
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+17G>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+17G>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+17G>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+17G>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*572G>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+17G>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+17G>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6085G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+17G>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+17G>T
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

22-29925136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925136
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925136
    reference: chr 22
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+15G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+15G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*570G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+15G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+15G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6083G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+15G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+15G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+15G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+15G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-29925137-AACC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925137
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925134
    reference: chr 22
allele count: 5
allele frequency: 4.119294776734223e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+11_925+13delGGT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+11_466+13delGGT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+11_958+13delGGT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+11_193+13delGGT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+11_925+13delGGT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*566_*568delGGT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+11_536+13delGGT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6079_161+6081delGGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+11_925+13delGGT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+11_925+13delGGT
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: AACC
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

22-29925138-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925138
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925138
    reference: chr 22
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+13T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6081T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+13T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*568T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+13T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+13T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+13T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+13T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+13T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+13T>C
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

22-29925140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925140
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925140
    reference: chr 22
allele count: 76
allele frequency: 6.261431231359884e-4
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6079G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+11G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+11G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+11G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+11G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*566G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+11G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+11G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+11G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+11G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 9.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37159
  bin: 9.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

22-29925142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925142
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925142
    reference: chr 22
allele count: 13
allele frequency: 1.070981348447901e-4
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+9G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+9G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+9G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*564G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+9G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+9G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6077G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+9G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+9G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+9G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-29925144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925144
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925144
    reference: chr 22
allele count: 11
allele frequency: 9.062000560196398e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.925+7T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.193+7T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.925+7T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.925+7T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.925+7T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*562T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.958+7T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.466+7T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.536+7T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6075T>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: c.925+7T>C
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-29925167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925167
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925167
    reference: chr 22
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.942T>C
  hgvsp: ENST00000442555.1:c.942T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.450T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.520T>C
  hgvsp: ENST00000443089.1:c.520T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*539T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.909T>C
  hgvsp: ENST00000397871.1:c.909T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.177T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.909T>C
  hgvsp: ENST00000490103.1:c.909T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.909T>C
  hgvsp: ENST00000397872.1:c.909T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.909T>C
  hgvsp: ENST00000397873.2:c.909T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6052T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro303Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

22-29925196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925196
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925196
    reference: chr 22
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.880G>A
  hgvsp: ENSP00000380971.2:p.Val294Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.880G>A
  hgvsp: ENSP00000420306.1:p.Val294Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.148G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.880G>A
  hgvsp: ENSP00000380969.1:p.Val294Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.913G>A
  hgvsp: ENSP00000416500.1:p.Val305Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.491G>A
  hgvsp: ENSP00000393247.1:p.Val165Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.880G>A
  hgvsp: ENSP00000380970.1:p.Val294Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6023G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*510G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.421G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val294Met
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-29925205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925205
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925205
    reference: chr 22
allele count: 17
allele frequency: 1.400467921046562e-4
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.904G>A
  hgvsp: ENSP00000416500.1:p.Glu302Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.871G>A
  hgvsp: ENSP00000380971.2:p.Glu291Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.482G>A
  hgvsp: ENSP00000393247.1:p.Glu162Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.871G>A
  hgvsp: ENSP00000380970.1:p.Glu291Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.871G>A
  hgvsp: ENSP00000380969.1:p.Glu291Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*501G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.412G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.871G>A
  hgvsp: ENSP00000420306.1:p.Glu291Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.139G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6014G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu291Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-29925206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925206
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925206
    reference: chr 22
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.870C>T
  hgvsp: ENST00000397871.1:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.481C>T
  hgvsp: ENST00000443089.1:c.481C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.870C>T
  hgvsp: ENST00000397872.1:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6013C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.903C>T
  hgvsp: ENST00000442555.1:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.870C>T
  hgvsp: ENST00000490103.1:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.411C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*500C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.138C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.870C>T
  hgvsp: ENST00000397873.2:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37116
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile290Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/22-29925207-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925207
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925207
    reference: chr 22
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.869T>G
  hgvsp: ENSP00000380971.2:p.Ile290Ser
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.869T>G
  hgvsp: ENSP00000420306.1:p.Ile290Ser
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*499T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.480T>G
  hgvsp: ENSP00000393247.1:p.Ile161Ser
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6012T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.869T>G
  hgvsp: ENSP00000380970.1:p.Ile290Ser
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.902T>G
  hgvsp: ENSP00000416500.1:p.Ile301Ser
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.869T>G
  hgvsp: ENSP00000380969.1:p.Ile290Ser
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.410T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.137T>G
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile290Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

22-29925208-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925208
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925208
    reference: chr 22
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.868A>G
  hgvsp: ENSP00000380970.1:p.Ile290Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.868A>G
  hgvsp: ENSP00000380969.1:p.Ile290Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*498A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.868A>G
  hgvsp: ENSP00000420306.1:p.Ile290Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.868A>G
  hgvsp: ENSP00000380971.2:p.Ile290Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.479A>G
  hgvsp: ENSP00000393247.1:p.Ile161Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.136A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+6011A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.901A>G
  hgvsp: ENSP00000416500.1:p.Ile301Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.409A>G
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile290Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

22-29925221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925221
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925221
    reference: chr 22
allele count: 5630
allele frequency: 4.640160880888801e-2
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.466G>A
  hgvsp: ENST00000443089.1:c.466G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.855G>A
  hgvsp: ENST00000397872.1:c.855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.888G>A
  hgvsp: ENST00000442555.1:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.855G>A
  hgvsp: ENST00000397873.2:c.855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.855G>A
  hgvsp: ENST00000397871.1:c.855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.396G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.855G>A
  hgvsp: ENST00000490103.1:c.855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*485G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5998G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.123G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 9.75e1
  variant carriers: 3991
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 5.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 4.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 6.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 7.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 8.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.25e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Thr285Thr
num of homozygotes: 671
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

22-29925222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925222
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925222
    reference: chr 22
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.465C>T
  hgvsp: ENSP00000393247.1:p.Thr156Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.854C>T
  hgvsp: ENSP00000380970.1:p.Thr285Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.854C>T
  hgvsp: ENSP00000380969.1:p.Thr285Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.854C>T
  hgvsp: ENSP00000380971.2:p.Thr285Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.887C>T
  hgvsp: ENSP00000416500.1:p.Thr296Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.395C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*484C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.854C>T
  hgvsp: ENSP00000420306.1:p.Thr285Met
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5997C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.122C>T
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr285Met
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-29925222-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925222
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925222
    reference: chr 22
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*484C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.854C>A
  hgvsp: ENSP00000380970.1:p.Thr285Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.854C>A
  hgvsp: ENSP00000380969.1:p.Thr285Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5997C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.854C>A
  hgvsp: ENSP00000380971.2:p.Thr285Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.122C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.887C>A
  hgvsp: ENSP00000416500.1:p.Thr296Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.854C>A
  hgvsp: ENSP00000420306.1:p.Thr285Lys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.395C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.465C>A
  hgvsp: ENSP00000393247.1:p.Thr156Lys
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr285Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-29925223-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925223
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925223
    reference: chr 22
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.853A>G
  hgvsp: ENSP00000380970.1:p.Thr285Ala
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*483A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.853A>G
  hgvsp: ENSP00000420306.1:p.Thr285Ala
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.853A>G
  hgvsp: ENSP00000380969.1:p.Thr285Ala
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.886A>G
  hgvsp: ENSP00000416500.1:p.Thr296Ala
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.121A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.464A>G
  hgvsp: ENSP00000393247.1:p.Thr156Ala
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.853A>G
  hgvsp: ENSP00000380971.2:p.Thr285Ala
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.394A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5996A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr285Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

22-29925223-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925223
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925223
    reference: chr 22
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.394A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5996A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.886A>C
  hgvsp: ENSP00000416500.1:p.Thr296Pro
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.121A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.853A>C
  hgvsp: ENSP00000380969.1:p.Thr285Pro
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*483A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.853A>C
  hgvsp: ENSP00000420306.1:p.Thr285Pro
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.464A>C
  hgvsp: ENSP00000393247.1:p.Thr156Pro
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.853A>C
  hgvsp: ENSP00000380970.1:p.Thr285Pro
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.853A>C
  hgvsp: ENSP00000380971.2:p.Thr285Pro
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr285Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

22-29925227-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925227
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925227
    reference: chr 22
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*479T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.849T>C
  hgvsp: ENST00000490103.1:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.849T>C
  hgvsp: ENST00000397873.2:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.460T>C
  hgvsp: ENST00000443089.1:c.460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.117T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.882T>C
  hgvsp: ENST00000442555.1:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.390T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.849T>C
  hgvsp: ENST00000397871.1:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5992T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.849T>C
  hgvsp: ENST00000397872.1:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.849T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

22-29925229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925229
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925229
    reference: chr 22
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5990G>A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-1G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-1G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-1G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-1G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-1G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-1G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-1G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-1G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-1G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 9.25e1
  variant carriers: 0
hgvs: c.848-1G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

22-29925230-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925230
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925231
    reference: chr 22
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-3dupC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-3dupC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-3dupC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-3dupC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5988dupC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-3dupC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-3dupC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-3dupC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-3dupC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-3dupC
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: c.848-3dupC
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

22-29925231-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925231
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925231
    reference: chr 22
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-3C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-3C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-3C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-3C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-3C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-3C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5988C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-3C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-3C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-3C>G
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: c.848-3C>G
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-29925231-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925231
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925231
    reference: chr 22
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-3C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-3C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-3C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-3C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5988C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-3C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-3C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-3C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-3C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-3C>A
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 8.75e1
  variant carriers: 0
hgvs: c.848-3C>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

22-29925233-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925233
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925233
    reference: chr 22
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-5C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-5C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-5C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-5C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-5C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-5C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-5C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-5C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5986C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-5C>G
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3850
  bin: 6.75e1
  variant carriers: 0
hgvs: c.848-5C>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

22-29925237-CAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925237
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925234
    reference: chr 22
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-12_*478-10delCTT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-12_848-10delCTT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-12_848-10delCTT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5979_161+5981delCTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-12_116-10delCTT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-12_881-10delCTT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-12_459-10delCTT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-12_848-10delCTT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-12_389-10delCTT
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-12_848-10delCTT
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: CAAG
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

22-29925239-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925239
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925238
    reference: chr 22
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5979delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-12delC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-12delC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-12delC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-12delC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-12delC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-12delC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-12delC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-12delC
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-12delC
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AG
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

22-29925252-TAGGAAAGCTGCTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925252
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925239
    reference: chr 22
allele count: 11
allele frequency: 9.072164948453609e-5
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7176
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: TAGGAAAGCTGCTG
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-29925258-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925258
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925258
    reference: chr 22
allele count: 3
allele frequency: 2.474471700291988e-5
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-30T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-30T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-30T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-30T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-30T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5961T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-30T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-30T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-30T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-30T>C
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-29925262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925262
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925262
    reference: chr 22
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-34C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-34C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-34C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-34C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-34C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-34C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5957C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-34C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-34C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-34C>T
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

22-29925265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925265
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925265
    reference: chr 22
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-37C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-37C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-37C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-37C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-37C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-37C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-37C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-37C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-37C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5954C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

22-29925267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925267
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925267
    reference: chr 22
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5952C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-39C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-39C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-39C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-39C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-39C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-39C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-39C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-39C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-39C>T
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/22-29925269-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925269
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925269
    reference: chr 22
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-41T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-41T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5950T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-41T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-41T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-41T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-41T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-41T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-41T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-41T>G
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

22-29925274-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925274
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925274
    reference: chr 22
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-46A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-46A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-46A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-46A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-46A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-46A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-46A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5945A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-46A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-46A>C
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

22-29925277-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925277
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925277
    reference: chr 22
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-49A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-49A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-49A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-49A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-49A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-49A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-49A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5942A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-49A>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-49A>C
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

22-29925280-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29925280
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29925280
    reference: chr 22
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.848-52C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.881-52C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+5939C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.389-52C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.848-52C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.848-52C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*478-52C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.459-52C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.848-52C>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-52C>G
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

22-29927032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927032
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927032
    reference: chr 22
allele count: 1
allele frequency: 2.406159769008662e-4
allele num: 4156
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+788G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+788G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.458+35G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+788G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-1804G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+788G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+4187G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.880+35G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+788G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+788G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

22-29927033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927033
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927033
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 4192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+787C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+787C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.880+34C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.458+34C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+787C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+787C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-1805C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+787C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+787C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+4186C>T
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

22-29927086-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927086
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927086
    reference: chr 22
allele count: 2
allele frequency: 3.298153034300791e-4
allele num: 6064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+734C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+734C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.861C>A
  hgvsp: ENST00000442555.1:c.861C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+734C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+734C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+734C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.439C>A
  hgvsp: ENST00000443089.1:c.439C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-1858C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+734C>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+4133C>A
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser287Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

22-29927094-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927094
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927094
    reference: chr 22
allele count: 1
allele frequency: 1.602050624799744e-4
allele num: 6242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+726A>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.853A>T
  hgvsp: ENSP00000416500.1:p.Met285Leu
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+4125A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+726A>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+726A>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.431A>T
  hgvsp: ENSP00000393247.1:p.Met145Leu
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+726A>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+726A>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+726A>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-1866A>T
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met285Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

22-29927107-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927107
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927107
    reference: chr 22
allele count: 1
allele frequency: 1.5625e-4
allele num: 6400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+713A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+713A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+713A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.426-8A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-1879A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+713A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.848-8A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+713A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+713A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+4112A>G
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 2.25e1
  variant carriers: 0
hgvs: c.848-8A>G
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-29927124-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927124
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927124
    reference: chr 22
allele count: 1
allele frequency: 1.54273372415921e-4
allele num: 6482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.426-25T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+696T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+696T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+4095T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+696T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+696T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+696T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.848-25T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-1896T>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+696T>G
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS

22-29927132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927132
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927132
    reference: chr 22
allele count: 1
allele frequency: 1.575299306868305e-4
allele num: 6348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+688C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+4087C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+688C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.848-33C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+688C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-1904C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+688C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.426-33C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+688C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+688C>T
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

22-29927139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927139
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927139
    reference: chr 22
allele count: 190
allele frequency: 3.217067389095835e-2
allele num: 5906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+681C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+681C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+681C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.426-40C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+681C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+4080C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+681C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.848-40C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-1911C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+681C>T
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.5e0
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13882
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 4
num of homozygotes: 11
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

22-29927782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927782
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927782
    reference: chr 22
allele count: 1
allele frequency: 8.33625102119075e-6
allele num: 119958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+38G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+38G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-2554G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+38G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+38G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+3437G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000488052
  gene symbol: THOC5
  hgvsc: ENST00000488052.1:n.286G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.847+38G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+38G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.425+38G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+38G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

22-29927796-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927796
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927796
    reference: chr 22
allele count: 3
allele frequency: 2.494843989089216e-5
allele num: 120248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.847+24A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.425+24A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+24A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-2568A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+3423A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+24A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000488052
  gene symbol: THOC5
  hgvsc: ENST00000488052.1:n.272A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+24A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+24A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+24A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+24A>G
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

22-29927810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927810
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927810
    reference: chr 22
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.847+10G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.388+10G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*477+10G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.847+10G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-2582G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.847+10G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+3409G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.425+10G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000488052
  gene symbol: THOC5
  hgvsc: ENST00000488052.1:n.258G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.847+10G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.847+10G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

22-29927821-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927821
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927821
    reference: chr 22
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.846T>C
  hgvsp: ENST00000490103.1:c.846T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.846T>C
  hgvsp: ENST00000397871.1:c.846T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.846T>C
  hgvsp: ENST00000397872.1:c.846T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000488052
  gene symbol: THOC5
  hgvsc: ENST00000488052.1:n.247T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-2593T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.846T>C
  hgvsp: ENST00000397873.2:c.846T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.846T>C
  hgvsp: ENST00000442555.1:c.846T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*476T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+3398T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.424T>C
  hgvsp: ENST00000443089.1:c.424T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.387T>C
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.846T>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

22-29927834-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927834
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927834
    reference: chr 22
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.833A>G
  hgvsp: ENSP00000380971.2:p.Tyr278Cys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*463A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-2606A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.833A>G
  hgvsp: ENSP00000420306.1:p.Tyr278Cys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+3385A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.833A>G
  hgvsp: ENSP00000416500.1:p.Tyr278Cys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.833A>G
  hgvsp: ENSP00000380970.1:p.Tyr278Cys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000488052
  gene symbol: THOC5
  hgvsc: ENST00000488052.1:n.234A>G
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.833A>G
  hgvsp: ENSP00000380969.1:p.Tyr278Cys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.411A>G
  hgvsp: ENSP00000393247.1:p.Tyr138Cys
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.374A>G
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr278Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-29927836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927836
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927836
    reference: chr 22
allele count: 1158
allele frequency: 9.54831049324692e-3
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.372G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.831G>A
  hgvsp: ENST00000397873.2:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.831G>A
  hgvsp: ENST00000490103.1:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.409G>A
  hgvsp: ENST00000443089.1:c.409G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+3383G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.831G>A
  hgvsp: ENST00000397871.1:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-2608G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.831G>A
  hgvsp: ENST00000442555.1:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.831G>A
  hgvsp: ENST00000397872.1:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*461G>A
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000488052
  gene symbol: THOC5
  hgvsc: ENST00000488052.1:n.232G>A
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 6.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 13036
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
hgvs: p.Ala277Ala
num of homozygotes: 8
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

22-29927837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927837
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927837
    reference: chr 22
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.371C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.830C>T
  hgvsp: ENSP00000380970.1:p.Ala277Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.830C>T
  hgvsp: ENSP00000380969.1:p.Ala277Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.830C>T
  hgvsp: ENSP00000420306.1:p.Ala277Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+3382C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*460C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.408C>T
  hgvsp: ENSP00000393247.1:p.Ala137Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-2609C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000488052
  gene symbol: THOC5
  hgvsc: ENST00000488052.1:n.231C>T
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.830C>T
  hgvsp: ENSP00000380971.2:p.Ala277Val
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.830C>T
  hgvsp: ENSP00000416500.1:p.Ala277Val
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala277Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

22-29927839-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927839
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927839
    reference: chr 22
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.369T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-2611T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.828T>C
  hgvsp: ENST00000490103.1:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.828T>C
  hgvsp: ENST00000397872.1:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+3380T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.828T>C
  hgvsp: ENST00000397873.2:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.406T>C
  hgvsp: ENST00000443089.1:c.406T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000488052
  gene symbol: THOC5
  hgvsc: ENST00000488052.1:n.229T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.828T>C
  hgvsp: ENST00000397871.1:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.828T>C
  hgvsp: ENST00000442555.1:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*458T>C
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr276Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

22-29927851-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29927851
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29927851
    reference: chr 22
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000420306
  ensembl transcript: ENST00000490103
  gene symbol: THOC5
  hgvsc: ENST00000490103.1:c.816T>C
  hgvsp: ENST00000490103.1:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000488052
  gene symbol: THOC5
  hgvsc: ENST00000488052.1:n.217T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000492707
  gene symbol: THOC5
  hgvsc: ENST00000492707.1:n.357T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380969
  ensembl transcript: ENST00000397871
  gene symbol: THOC5
  hgvsc: ENST00000397871.1:c.816T>C
  hgvsp: ENST00000397871.1:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380971
  ensembl transcript: ENST00000397873
  gene symbol: THOC5
  hgvsc: ENST00000397873.2:c.816T>C
  hgvsp: ENST00000397873.2:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000416500
  ensembl transcript: ENST00000442555
  gene symbol: THOC5
  hgvsc: ENST00000442555.1:c.816T>C
  hgvsp: ENST00000442555.1:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234208
  ensembl transcript: ENST00000411969
  gene symbol: CTA-256D12.11
  hgvsc: ENST00000411969.1:n.161+3368T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000380970
  ensembl transcript: ENST00000397872
  gene symbol: THOC5
  hgvsc: ENST00000397872.1:c.816T>C
  hgvsp: ENST00000397872.1:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000444493
  ensembl transcript: ENST00000358079
  gene symbol: THOC5
  hgvsc: ENST00000358079.4:c.*446T>C
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100296
  ensembl protein: ENSP00000393247
  ensembl transcript: ENST00000443089
  gene symbol: THOC5
  hgvsc: ENST00000443089.1:c.394T>C
  hgvsp: ENST00000443089.1:c.394T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100296
  ensembl transcript: ENST00000484924
  gene symbol: THOC5
  hgvsc: ENST00000484924.1:n.116-2623T>C
  variant of: http://identifiers.org/hgnc/19074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe272Phe
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3018
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8951
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27512
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2741
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4390
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740644038294169e-4
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.209482341557813e-4
allele num: 66144
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.37e1

DP
type: SiteQuality
SIO_000300: 2.412321e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4464
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27517
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3017
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 5.888125613346418e-4
allele num: 10190
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.409645e6

FS
type: SiteQuality
SIO_000300: 2.769e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.292e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.918e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27517
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2740
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3011
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.573233164702675e-5
allele num: 66022
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.82370820668693e-4
allele num: 16450
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.574e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

DP
type: SiteQuality
SIO_000300: 2.408725e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 6.19e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4664
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2740
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27515
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4463
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516300227445034e-5
allele num: 65950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.178e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

FS
type: SiteQuality
SIO_000300: 4.908e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.817e0

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 2.407084e6

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27515
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4459
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4663
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517404631118934e-5
allele num: 65902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.687e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.405601e6

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.541e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27513
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2738
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518971959777622e-5
allele num: 65834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.486e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.026e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.092e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.404873e6

MQ
type: SiteQuality
SIO_000300: 6.025e1

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27512
bin: 9.75e1
variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519248883352071e-5
allele num: 65822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.682e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

DP
type: SiteQuality
SIO_000300: 2.404515e6

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.421e1

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

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 733
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2720
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4317
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.07921213410742e-5
allele num: 65798
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 2.181881654739047e-3
allele num: 11458
num of homozygotes: 0

African
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allele count: 552
allele frequency: 5.471847739888977e-2
allele num: 10088
num of homozygotes: 12

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.17e-2

DP
type: SiteQuality
SIO_000300: 2.432042e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.653e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.436e0

VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.043213633597079e-5
allele num: 65720
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 7.59e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

QD
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ClippingRankSum
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SIO_000300: 2.22e-1

BaseQRankSum
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SIO_000300: -4.798e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.829268292682927e-4
allele num: 16400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 1.288e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.375e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e-1

DP
type: SiteQuality
SIO_000300: 2.413407e6

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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044696139325295e-5
allele num: 65688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 3.159e1

VQSLOD
type: SiteQuality
SIO_000300: -2.128e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.412718e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.062e0

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: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

FS
type: SiteQuality
SIO_000300: 4.436e0

QD
type: SiteQuality
SIO_000300: 1.146e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.194735e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.38e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

DP
type: SiteQuality
SIO_000300: 3.197238e6

MQ
type: SiteQuality
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QD
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SIO_000300: 1.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49842555105713e-5
allele num: 66690
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ReadPosRankSum
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SIO_000300: 1.68e-1

FS
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

BaseQRankSum
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SIO_000300: -1.537e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 56
allele frequency: 4.836759371221282e-3
allele num: 11578
num of homozygotes: 1

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.249212775528565e-4
allele num: 66690
num of homozygotes: 1

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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MQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.635041802980734e-4
allele num: 16506
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.0e-4

ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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SIO_000300: 2.664e0

MQRankSum
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DP
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.066e1

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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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.64e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.355e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.19962e6

MQRankSum
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SIO_000300: 3.26e-1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.764e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.199942e6

InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
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SIO_000300: 1.26e-1

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

South Asian
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allele num: 16510
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Latino
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num of homozygotes: 0

Other
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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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African
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East Asian
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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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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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 count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

Latino
type: Population
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num of homozygotes: 0

Other
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South Asian
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East Asian
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allele num: 8654
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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DP
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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African
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allele frequency: 1.153180857197771e-3
allele num: 10406
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South Asian
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

VQSLOD
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FS
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MQRankSum
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DP
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MQ
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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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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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 1686
bin: 7.25e1
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GenotypeQuality
all individuals: 37132
bin: 9.75e1
variant carriers: 11

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

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349001738713352e-4
allele num: 66716
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

DP
type: SiteQuality
SIO_000300: 3.200539e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.151e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.311e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

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

GenotypeQuality
all individuals: 7300
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.199916e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

FS
type: SiteQuality
SIO_000300: 7.557e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.775e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.324e0

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

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.043e1

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.445e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

DP
type: SiteQuality
SIO_000300: 3.199857e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

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

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 9.75e1
variant carriers: 17

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3055
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.691096305269534e-4
allele num: 16510
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

DP
type: SiteQuality
SIO_000300: 3.200643e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.291e1

FS
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

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

GenotypeQuality
all individuals: 3056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 7276
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3595
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 3.199315e6

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

FS
type: SiteQuality
SIO_000300: 2.826e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.519e1

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

GenotypeQuality
all individuals: 3594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 7284
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37116
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.054e0

FS
type: SiteQuality
SIO_000300: 7.857e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 3.199243e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.221e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 3594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7285
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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: 1
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1644
bin: 8.75e1
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GenotypeQuality
all individuals: 37115
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3272
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.297e1

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.31e-1

DP
type: SiteQuality
SIO_000300: 3.199285e6

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
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variant carriers: 1

GenotypeQuality
all individuals: 3519
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
all individuals: 18
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variant carriers: 2

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 3207
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2939
bin: 7.75e1
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GenotypeQuality
all individuals: 37542
bin: 9.75e1
variant carriers: 4943

GenotypeQuality
all individuals: 1606
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7118
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3103
allele frequency: 3.591435185185185e-1
allele num: 8640
num of homozygotes: 580

Latino
type: Population
allele count: 933
allele frequency: 8.059778852798895e-2
allele num: 11576
num of homozygotes: 54

European (Finnish)
type: Population
allele count: 304
allele frequency: 4.596310855760508e-2
allele num: 6614
num of homozygotes: 10

Other
type: Population
allele count: 51
allele frequency: 5.616740088105727e-2
allele num: 908
num of homozygotes: 1

African
type: Population
allele count: 51
allele frequency: 4.904789382573571e-3
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 705
allele frequency: 4.270656651320572e-2
allele num: 16508
num of homozygotes: 19

European (Non-Finnish)
type: Population
allele count: 483
allele frequency: 7.242682341650672e-3
allele num: 66688
num of homozygotes: 7

DP
type: SiteQuality
SIO_000300: 3.512685e6

FS
type: SiteQuality
SIO_000300: 6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.01e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.977e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
SIO_000300: 1.555e1

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

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
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allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

QD
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MQ
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DP
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FS
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SIO_000300: 3.898e0

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -4.42e-1

MQRankSum
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SIO_000300: 1.6e-2

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
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SIO_000300: -2.39e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

MQRankSum
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DP
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VQSLOD
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QD
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.39e-1

MQ
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SIO_000300: 5.969e1

ReadPosRankSum
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SIO_000300: 3.78e-1

InbreedingCoeff
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SIO_000300: 5.7e-3

ClippingRankSum
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SIO_000300: -4.42e-1

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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SIO_000300: 1.35e-1

QD
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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

InbreedingCoeff
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SIO_000300: 6.1e-3

ReadPosRankSum
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QD
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FS
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VQSLOD
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MQ
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: 1.35e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

BaseQRankSum
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SIO_000300: 1.46e0

QD
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FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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DP
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VQSLOD
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
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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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num of homozygotes: 0

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

QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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SIO_000300: 9.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66668
num of homozygotes: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

MQ
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SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.283e1

FS
type: SiteQuality
SIO_000300: 1.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.447e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 3.053444e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.052e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.447e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 3.053444e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.872e0

VQSLOD
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SIO_000300: -1.395e0

InbreedingCoeff
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SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.2142e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

DP
type: SiteQuality
SIO_000300: 3.052566e6

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 2.579e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

MQ
type: SiteQuality
SIO_000300: 5.722e1

FS
type: SiteQuality
SIO_000300: 3.713e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 3.051876e6

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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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: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.884e0

QD
type: SiteQuality
SIO_000300: 1.322e1

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

DP
type: SiteQuality
SIO_000300: 3.0512e6

FS
type: SiteQuality
SIO_000300: 2.919e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

MQ
type: SiteQuality
SIO_000300: 6.014e1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

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

South Asian
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allele count: 11
allele frequency: 6.670709520921771e-4
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.49e1

MQRankSum
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DP
type: SiteQuality
SIO_000300: 3.045147e6

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.502070952638214e-5
allele num: 66636
num of homozygotes: 0

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

Other
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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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InbreedingCoeff
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SIO_000300: 6.9e-3

DP
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MQRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -3.17e-1

QD
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SIO_000300: 1.277e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66598
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African
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allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
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MQRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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SIO_000300: -7.872e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 1.385e0

QD
type: SiteQuality
SIO_000300: 1.026e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.51e0

DP
type: SiteQuality
SIO_000300: 3.030064e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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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: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.484e1

BaseQRankSum
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SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 3.028715e6

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

ClippingRankSum
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SIO_000300: 1.07e0

ReadPosRankSum
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SIO_000300: -1.397e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

QD
type: SiteQuality
SIO_000300: 1.271e1

DP
type: SiteQuality
SIO_000300: 3.024251e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.221e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 3.015391e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: -4.244e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.397e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.013553e6

VQSLOD
type: SiteQuality
SIO_000300: -1.698e0

QD
type: SiteQuality
SIO_000300: 1.296e1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 1.3915e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e0

GenotypeQuality
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bin: 9.25e1
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: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.333e0

QD
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VQSLOD
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 3.011565e6

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.602564102564103e-3
allele num: 624
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 564
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QD
type: SiteQuality
SIO_000300: 9.07e0

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

ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

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

African
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allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 576
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2344
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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MQ
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.288629737609329e-4
allele num: 2744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.08e-2

QD
type: SiteQuality
SIO_000300: 1.164e1

DP
type: SiteQuality
SIO_000300: 1.57578e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.307e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 62
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.573981415296641e-4
allele num: 2798
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.39e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.805e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
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SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.468e0

MQRankSum
type: SiteQuality
SIO_000300: -1.835e0

FS
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 1.60524e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.89e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.528581510232887e-4
allele num: 2834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.013e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: -2.155e0

FS
type: SiteQuality
SIO_000300: 4.944e0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 1.62787e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-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: 111
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 4.496402877697842e-4
allele num: 2224
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.41e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.223e0

DP
type: SiteQuality
SIO_000300: 1.63781e5

VQSLOD
type: SiteQuality
SIO_000300: -4.025e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 7.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 34
bin: 8.25e1
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
all individuals: 46
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.498950314905528e-4
allele num: 2858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.63402e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.497e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 5

GenotypeQuality
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variant carriers: 17

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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variant carriers: 153

GenotypeQuality
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GenotypeQuality
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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: 23

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 95
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variant carriers: 4

Latino
type: Population
allele count: 2
allele frequency: 1.176470588235294e-2
allele num: 170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.660322108345535e-4
allele num: 2732
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

South Asian
type: Population
allele count: 187
allele frequency: 1.011904761904762e-1
allele num: 1848
num of homozygotes: 11

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.37e-1

DP
type: SiteQuality
SIO_000300: 1.62307e5

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.419309282321222e-5
allele num: 15578
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

QD
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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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.899936668777707e-4
allele num: 15790
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
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DP
type: SiteQuality
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QD
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BaseQRankSum
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MQRankSum
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SIO_000300: 6.73e-1

InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.239310943115628e-4
allele num: 16138
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.824e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.233e0

VQSLOD
type: SiteQuality
SIO_000300: -1.886e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

DP
type: SiteQuality
SIO_000300: 2.243586e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeDepth
all individuals: 702
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1095
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3377
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
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GenotypeQuality
all individuals: 15791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17664
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

FS
type: SiteQuality
SIO_000300: 2.448e0

QD
type: SiteQuality
SIO_000300: 1.381e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.62e-1

DP
type: SiteQuality
SIO_000300: 2.250708e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

GenotypeQuality
all individuals: 2498
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4874
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17653
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.255821e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 3.72e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

MQ
type: SiteQuality
SIO_000300: 5.895e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e0

GenotypeQuality
all individuals: 6715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5308
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4857
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3733
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17767
bin: 9.75e1
variant carriers: 1150

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 27
allele frequency: 2.59515570934256e-3
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 53
allele frequency: 4.580020739716557e-3
allele num: 11572
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1011
allele frequency: 1.516970260780842e-2
allele num: 66646
num of homozygotes: 6

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

European (Finnish)
type: Population
allele count: 37
allele frequency: 5.594194133655882e-3
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 1.577287066246057e-3
allele num: 16484
num of homozygotes: 1

Other
type: Population
allele count: 4
allele frequency: 4.415011037527594e-3
allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

DP
type: SiteQuality
SIO_000300: 2.260017e6

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

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 4963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 16431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16984
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 6852
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3816
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.21411e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.928e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16984
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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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: 65
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2533
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6847
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4967
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

FS
type: SiteQuality
SIO_000300: 4.591e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 2.214119e6

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0