4-57204737-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204737
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204737
    reference: chr 4
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2168C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2828C>T
  hgvsp: ENSP00000423760.1:p.Thr943Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1673C>T
  hgvsp: ENSP00000392158.2:p.Thr558Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3128C>T
  hgvsp: ENSP00000205214.6:p.Thr1043Ile
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8103
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1043Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

4-57204739-A-AGAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204739
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204742
    reference: chr 4
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: AGAT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2823_2825dupATC
  hgvsp: ENSP00000423760.1:p.Ser942dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2163_*2165dupATC
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1668_1670dupATC
  hgvsp: ENSP00000392158.2:p.Ser557dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3123_3125dupATC
  hgvsp: ENSP00000205214.6:p.Ser1042dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*130_*132dupATC
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12745
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9645
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1042dup
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

4-57204743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204743
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204743
    reference: chr 4
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1667C>T
  hgvsp: ENSP00000392158.2:p.Ala556Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2822C>T
  hgvsp: ENSP00000423760.1:p.Ala941Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3122C>T
  hgvsp: ENSP00000205214.6:p.Ala1041Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2162C>T
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1041Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-57204744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204744
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204744
    reference: chr 4
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2821G>A
  hgvsp: ENSP00000423760.1:p.Ala941Thr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1666G>A
  hgvsp: ENSP00000392158.2:p.Ala556Thr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2161G>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3121G>A
  hgvsp: ENSP00000205214.6:p.Ala1041Thr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*128G>A
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1041Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

4-57204745-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204745
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204745
    reference: chr 4
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2160A>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1665A>T
  hgvsp: ENST00000434343.2:c.1665A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2820A>T
  hgvsp: ENST00000513376.1:c.2820A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3120A>T
  hgvsp: ENST00000205214.6:c.3120A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*127A>T
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1040Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

4-57204746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204746
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204746
    reference: chr 4
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2159C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2819C>T
  hgvsp: ENSP00000423760.1:p.Ala940Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3119C>T
  hgvsp: ENSP00000205214.6:p.Ala1040Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1664C>T
  hgvsp: ENSP00000392158.2:p.Ala555Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*126C>T
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18381
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1040Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

4-57204757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204757
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204757
    reference: chr 4
allele count: 6
allele frequency: 4.943072284193702e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2148G>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1653G>A
  hgvsp: ENSP00000392158.2:p.Met551Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*115G>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2808G>A
  hgvsp: ENSP00000423760.1:p.Met936Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3108G>A
  hgvsp: ENSP00000205214.6:p.Met1036Ile
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18422
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9661
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Met1036Ile
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

4-57204759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204759
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204759
    reference: chr 4
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3106A>G
  hgvsp: ENSP00000205214.6:p.Met1036Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2806A>G
  hgvsp: ENSP00000423760.1:p.Met936Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*113A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2146A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1651A>G
  hgvsp: ENSP00000392158.2:p.Met551Val
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met1036Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

4-57204770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204770
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204770
    reference: chr 4
allele count: 6
allele frequency: 4.94323518265254e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3095G>A
  hgvsp: ENSP00000205214.6:p.Gly1032Asp
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2795G>A
  hgvsp: ENSP00000423760.1:p.Gly932Asp
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1640G>A
  hgvsp: ENSP00000392158.2:p.Gly547Asp
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*102G>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2135G>A
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18449
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1032Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

4-57204772-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204772
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204772
    reference: chr 4
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*100T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2133T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1638T>C
  hgvsp: ENST00000434343.2:c.1638T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3093T>C
  hgvsp: ENST00000205214.6:c.3093T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2793T>C
  hgvsp: ENST00000513376.1:c.2793T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2547T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*100T>C
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9664
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn1031Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

4-57204773-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204773
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204773
    reference: chr 4
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3092A>G
  hgvsp: ENSP00000205214.6:p.Asn1031Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2792A>G
  hgvsp: ENSP00000423760.1:p.Asn931Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1637A>G
  hgvsp: ENSP00000392158.2:p.Asn546Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2132A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*99A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*99A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2546A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn1031Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-57204775-G-GTAGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204775
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204779
    reference: chr 4
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: GTAGT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1631_1634dupACTA
  hgvsp: ENSP00000392158.2:p.Tyr545Ter
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2126_*2129dupACTA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*93_*96dupACTA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2786_2789dupACTA
  hgvsp: ENSP00000423760.1:p.Tyr930Ter
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2540_*2543dupACTA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3086_3089dupACTA
  hgvsp: ENSP00000205214.6:p.Tyr1030Ter
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*93_*96dupACTA
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr1030Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

4-57204777-A-AGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204777
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204780
    reference: chr 4
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: AGTT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2125_*2127dupAAC
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1630_1632dupAAC
  hgvsp: ENSP00000392158.2:p.Asn544dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2785_2787dupAAC
  hgvsp: ENSP00000423760.1:p.Asn929dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3085_3087dupAAC
  hgvsp: ENSP00000205214.6:p.Asn1029dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*92_*94dupAAC
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*92_*94dupAAC
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2539_*2541dupAAC
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1029dup
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/4-57204777-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204777
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204777
    reference: chr 4
allele count: 21383
allele frequency: 1.762238338552827e-1
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2542T>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3088T>G
  hgvsp: ENSP00000205214.6:p.Tyr1030Asp
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2128T>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1633T>G
  hgvsp: ENSP00000392158.2:p.Tyr545Asp
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*95T>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2788T>G
  hgvsp: ENSP00000423760.1:p.Tyr930Asp
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*95T>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 921
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 626
genotype depth: GenotypeDepth
  all individuals: 15008
  bin: 2.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.75e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 1398
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 1193
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 6.75e1
  variant carriers: 1647
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 9714
  bin: 3.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 8.25e1
  variant carriers: 1643
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 2.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 1158
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 9.75e1
  variant carriers: 4467
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.25e1
  variant carriers: 1717
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 1341
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 7.75e1
  variant carriers: 1750
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 8.25e1
  variant carriers: 9
hgvs: p.Tyr1030Asp
num of homozygotes: 2534
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-57204778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204778
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204778
    reference: chr 4
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*94C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2541C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1632C>T
  hgvsp: ENST00000434343.2:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*94C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2127C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3087C>T
  hgvsp: ENST00000205214.6:c.3087C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2787C>T
  hgvsp: ENST00000513376.1:c.2787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15716
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10046
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn1029Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

4-57204778-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204778
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204778
    reference: chr 4
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2787C>G
  hgvsp: ENSP00000423760.1:p.Asn929Lys
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2127C>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2541C>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3087C>G
  hgvsp: ENSP00000205214.6:p.Asn1029Lys
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1632C>G
  hgvsp: ENSP00000392158.2:p.Asn544Lys
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*94C>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*94C>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn1029Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

4-57204778-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204778
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204780
    reference: chr 4
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2785_2786dupAA
  hgvsp: ENSP00000423760.1:p.Asn929LysfsTer80
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*92_*93dupAA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2539_*2540dupAA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2125_*2126dupAA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3085_3086dupAA
  hgvsp: ENSP00000205214.6:p.Asn1029LysfsTer80
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*92_*93dupAA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1630_1631dupAA
  hgvsp: ENSP00000392158.2:p.Asn544LysfsTer80
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn1029LysfsTer80
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

4-57204780-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204780
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204780
    reference: chr 4
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*92A>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3085A>T
  hgvsp: ENSP00000205214.6:p.Asn1029Tyr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1630A>T
  hgvsp: ENSP00000392158.2:p.Asn544Tyr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2539A>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2125A>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*92A>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2785A>T
  hgvsp: ENSP00000423760.1:p.Asn929Tyr
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn1029Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

4-57204782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204782
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204782
    reference: chr 4
allele count: 4
allele frequency: 3.295544423938835e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1628A>G
  hgvsp: ENSP00000392158.2:p.His543Arg
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2537A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3083A>G
  hgvsp: ENSP00000205214.6:p.His1028Arg
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*90A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*90A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2783A>G
  hgvsp: ENSP00000423760.1:p.His928Arg
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2123A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His1028Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

4-57204787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204787
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204787
    reference: chr 4
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2778T>C
  hgvsp: ENST00000513376.1:c.2778T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3078T>C
  hgvsp: ENST00000205214.6:c.3078T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2118T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*85T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*85T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2532T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1623T>C
  hgvsp: ENST00000434343.2:c.1623T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1026Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

4-57204793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204793
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204793
    reference: chr 4
allele count: 3
allele frequency: 2.471780505891077e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1617G>A
  hgvsp: ENST00000434343.2:c.1617G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*79G>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2772G>A
  hgvsp: ENST00000513376.1:c.2772G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2112G>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3072G>A
  hgvsp: ENST00000205214.6:c.3072G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*79G>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2526G>A
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1024Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

4-57204794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204794
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204794
    reference: chr 4
allele count: 8
allele frequency: 6.591631923273405e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*78C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3071C>T
  hgvsp: ENSP00000205214.6:p.Pro1024Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2771C>T
  hgvsp: ENSP00000423760.1:p.Pro924Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1616C>T
  hgvsp: ENSP00000392158.2:p.Pro539Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*78C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2525C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2111C>T
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1024Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

4-57204795-G-GTGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204795
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204798
    reference: chr 4
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: GTGT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*74_*76dupACA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2767_2769dupACA
  hgvsp: ENSP00000423760.1:p.Thr923dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2521_*2523dupACA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*74_*76dupACA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1612_1614dupACA
  hgvsp: ENSP00000392158.2:p.Thr538dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2107_*2109dupACA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3067_3069dupACA
  hgvsp: ENSP00000205214.6:p.Thr1023dup
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr1023dup
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

4-57204797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204797
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204797
    reference: chr 4
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2522C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2768C>T
  hgvsp: ENSP00000423760.1:p.Thr923Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2108C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1613C>T
  hgvsp: ENSP00000392158.2:p.Thr538Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3068C>T
  hgvsp: ENSP00000205214.6:p.Thr1023Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*75C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*75C>T
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1023Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

4-57204798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204798
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204798
    reference: chr 4
allele count: 5
allele frequency: 4.119973632168754e-5
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3067A>G
  hgvsp: ENSP00000205214.6:p.Thr1023Ala
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2767A>G
  hgvsp: ENSP00000423760.1:p.Thr923Ala
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*74A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1612A>G
  hgvsp: ENSP00000392158.2:p.Thr538Ala
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2107A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2521A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*74A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1023Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

4-57204799-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204799
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204799
    reference: chr 4
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2766A>G
  hgvsp: ENST00000513376.1:c.2766A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*73A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2106A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*73A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3066A>G
  hgvsp: ENST00000205214.6:c.3066A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1611A>G
  hgvsp: ENST00000434343.2:c.1611A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2520A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1022Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

4-57204803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204803
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204803
    reference: chr 4
allele count: 7
allele frequency: 5.768438401318501e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3062A>G
  hgvsp: ENSP00000205214.6:p.Tyr1021Cys
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2102A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*69A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1607A>G
  hgvsp: ENSP00000392158.2:p.Tyr536Cys
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2762A>G
  hgvsp: ENSP00000423760.1:p.Tyr921Cys
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*69A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2516A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15709
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10043
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr1021Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-57204813-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204813
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204813
    reference: chr 4
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2506T>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3052T>G
  hgvsp: ENSP00000205214.6:p.Ser1018Ala
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*59T>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*59T>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1597T>G
  hgvsp: ENSP00000392158.2:p.Ser533Ala
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2092T>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2752T>G
  hgvsp: ENSP00000423760.1:p.Ser918Ala
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1018Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

4-57204818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204818
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204818
    reference: chr 4
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3047C>T
  hgvsp: ENSP00000205214.6:p.Thr1016Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*54C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1592C>T
  hgvsp: ENSP00000392158.2:p.Thr531Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2501C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2087C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2747C>T
  hgvsp: ENSP00000423760.1:p.Thr916Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*54C>T
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1016Ile
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

4-57204818-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204818
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204818
    reference: chr 4
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*54C>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2501C>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*54C>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2087C>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2747C>G
  hgvsp: ENSP00000423760.1:p.Thr916Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3047C>G
  hgvsp: ENSP00000205214.6:p.Thr1016Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1592C>G
  hgvsp: ENSP00000392158.2:p.Thr531Ser
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1016Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

4-57204824-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204824
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204824
    reference: chr 4
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*48T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1586T>C
  hgvsp: ENSP00000392158.2:p.Phe529Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2081T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*48T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2495T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2741T>C
  hgvsp: ENSP00000423760.1:p.Phe914Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3041T>C
  hgvsp: ENSP00000205214.6:p.Phe1014Ser
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe1014Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

4-57204824-A-AAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204824
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204826
    reference: chr 4
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: AAT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*46_*47dupAT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1584_1585dupAT
  hgvsp: ENSP00000392158.2:p.Phe529TyrfsTer95
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2493_*2494dupAT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*46_*47dupAT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2739_2740dupAT
  hgvsp: ENSP00000423760.1:p.Phe914TyrfsTer95
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3039_3040dupAT
  hgvsp: ENSP00000205214.6:p.Phe1014TyrfsTer95
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2079_*2080dupAT
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe1014TyrfsTer95
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

4-57204851-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204851
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204851
    reference: chr 4
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2714A>G
  hgvsp: ENSP00000423760.1:p.Asn905Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3014A>G
  hgvsp: ENSP00000205214.6:p.Asn1005Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2054A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1559A>G
  hgvsp: ENSP00000392158.2:p.Asn520Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*21A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2468A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*21A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn1005Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-57204854-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204854
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204856
    reference: chr 4
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2049_*2050dupTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2709_2710dupTT
  hgvsp: ENSP00000423760.1:p.Cys904PhefsTer4
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3009_3010dupTT
  hgvsp: ENSP00000205214.6:p.Cys1004PhefsTer4
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*16_*17dupTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1554_1555dupTT
  hgvsp: ENSP00000392158.2:p.Cys519PhefsTer4
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*16_*17dupTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2463_*2464dupTT
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys1004PhefsTer4
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

4-57204859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204859
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204859
    reference: chr 4
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3006C>T
  hgvsp: ENST00000205214.6:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1551C>T
  hgvsp: ENST00000434343.2:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2046C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2706C>T
  hgvsp: ENST00000513376.1:c.2706C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2460C>T
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr1002Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

4-57204860-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204860
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204860
    reference: chr 4
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1550A>C
  hgvsp: ENSP00000392158.2:p.Tyr517Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2045A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3005A>C
  hgvsp: ENSP00000205214.6:p.Tyr1002Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2705A>C
  hgvsp: ENSP00000423760.1:p.Tyr902Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*12A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*12A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2459A>C
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr1002Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

4-57204863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204863
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204863
    reference: chr 4
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*9T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2042T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*9T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2702T>C
  hgvsp: ENSP00000423760.1:p.Ile901Thr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2456T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.3002T>C
  hgvsp: ENSP00000205214.6:p.Ile1001Thr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1547T>C
  hgvsp: ENSP00000392158.2:p.Ile516Thr
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21322
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile1001Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

4-57204866-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204866
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204866
    reference: chr 4
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*6T>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*6T>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1544T>A
  hgvsp: ENSP00000392158.2:p.Phe515Tyr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2039T>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2699T>A
  hgvsp: ENSP00000423760.1:p.Phe900Tyr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2453T>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2999T>A
  hgvsp: ENSP00000205214.6:p.Phe1000Tyr
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe1000Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

4-57204868-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204868
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204867
    reference: chr 4
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*3delG
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*3delG
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2696delG
  hgvsp: ENSP00000423760.1:p.Cys899SerfsTer8
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1541delG
  hgvsp: ENSP00000392158.2:p.Cys514SerfsTer8
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2036delG
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2996delG
  hgvsp: ENSP00000205214.6:p.Cys999SerfsTer8
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2450delG
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys999SerfsTer8
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: GC
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

4-57204869-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204869
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204869
    reference: chr 4
allele count: 4
allele frequency: 3.305402680681574e-5
allele num: 121014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.*3G>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.*3G>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2450G>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2696G>C
  hgvsp: ENSP00000423760.1:p.Cys899Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2996G>C
  hgvsp: ENSP00000205214.6:p.Cys999Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2036G>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1541G>C
  hgvsp: ENSP00000392158.2:p.Cys514Ser
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys999Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/4-57204888-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204888
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204888
    reference: chr 4
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2431T>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2354T>G
  hgvsp: ENSP00000473564.1:p.Ile785Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2558T>G
  hgvsp: ENSP00000409656.1:p.Ile853Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1522T>G
  hgvsp: ENSP00000392158.2:p.Phe508Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2677T>G
  hgvsp: ENSP00000423760.1:p.Phe893Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2977T>G
  hgvsp: ENSP00000205214.6:p.Phe993Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2017T>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe993Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

4-57204888-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204888
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204888
    reference: chr 4
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2354T>C
  hgvsp: ENSP00000473564.1:p.Ile785Thr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1522T>C
  hgvsp: ENSP00000392158.2:p.Phe508Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2017T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2977T>C
  hgvsp: ENSP00000205214.6:p.Phe993Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2431T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2677T>C
  hgvsp: ENSP00000423760.1:p.Phe893Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2558T>C
  hgvsp: ENSP00000409656.1:p.Ile853Thr
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe993Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

4-57204891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204891
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204891
    reference: chr 4
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2555A>G
  hgvsp: ENSP00000409656.1:p.Asn852Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2674A>G
  hgvsp: ENSP00000423760.1:p.Ile892Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2974A>G
  hgvsp: ENSP00000205214.6:p.Ile992Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1519A>G
  hgvsp: ENSP00000392158.2:p.Ile507Val
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2014A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2351A>G
  hgvsp: ENSP00000473564.1:p.Asn784Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2428A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile992Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

4-57204894-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204894
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204894
    reference: chr 4
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2011A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1516A>C
  hgvsp: ENSP00000392158.2:p.Lys506Gln
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2971A>C
  hgvsp: ENSP00000205214.6:p.Lys991Gln
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2348A>C
  hgvsp: ENSP00000473564.1:p.Lys783Thr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2425A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2552A>C
  hgvsp: ENSP00000409656.1:p.Lys851Thr
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2671A>C
  hgvsp: ENSP00000423760.1:p.Lys891Gln
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys991Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-57204899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204899
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204899
    reference: chr 4
allele count: 2
allele frequency: 1.657495193263939e-5
allele num: 120664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2006A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1511A>G
  hgvsp: ENSP00000392158.2:p.Glu504Gly
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2666A>G
  hgvsp: ENSP00000423760.1:p.Glu889Gly
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2966A>G
  hgvsp: ENSP00000205214.6:p.Glu989Gly
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2547A>G
  hgvsp: ENST00000451613.1:c.2547A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2343A>G
  hgvsp: ENST00000602986.1:c.2343A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2420A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu989Gly
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-57204905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204905
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204905
    reference: chr 4
allele count: 1
allele frequency: 8.297102651754007e-6
allele num: 120524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*2000C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2414C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2960C>T
  hgvsp: ENSP00000205214.6:p.Pro987Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2337C>T
  hgvsp: ENST00000602986.1:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1505C>T
  hgvsp: ENSP00000392158.2:p.Pro502Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2660C>T
  hgvsp: ENSP00000423760.1:p.Pro887Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2541C>T
  hgvsp: ENST00000451613.1:c.2541C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro987Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

4-57204908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204908
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204908
    reference: chr 4
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2411C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2957C>T
  hgvsp: ENSP00000205214.6:p.Ser986Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1997C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2657C>T
  hgvsp: ENSP00000423760.1:p.Ser886Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2538C>T
  hgvsp: ENST00000451613.1:c.2538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1502C>T
  hgvsp: ENSP00000392158.2:p.Ser501Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2334C>T
  hgvsp: ENST00000602986.1:c.2334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser986Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

4-57204916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204916
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204916
    reference: chr 4
allele count: 25
allele frequency: 2.07748175971015e-4
allele num: 120338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1494G>A
  hgvsp: ENST00000434343.2:c.1494G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1989G>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2949G>A
  hgvsp: ENST00000205214.6:c.2949G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2326G>A
  hgvsp: ENSP00000473564.1:p.Val776Met
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2530G>A
  hgvsp: ENSP00000409656.1:p.Val844Met
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2649G>A
  hgvsp: ENST00000513376.1:c.2649G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2403G>A
  variant of: http://identifiers.org/hgnc/23993
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21062
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val776Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

4-57204917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204917
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204917
    reference: chr 4
allele count: 3
allele frequency: 2.493351063829787e-5
allele num: 120320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2529C>T
  hgvsp: ENST00000451613.1:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2648C>T
  hgvsp: ENSP00000423760.1:p.Pro883Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2325C>T
  hgvsp: ENST00000602986.1:c.2325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1493C>T
  hgvsp: ENSP00000392158.2:p.Pro498Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1988C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2948C>T
  hgvsp: ENSP00000205214.6:p.Pro983Leu
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2402C>T
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro983Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS

4-57204924-A-AAAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204924
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204928
    reference: chr 4
allele count: 2
allele frequency: 1.6632569898375e-5
allele num: 120246
alternate allele: AAAAG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2637_2640dupCTTT
  hgvsp: ENSP00000423760.1:p.Ser881LeufsTer19
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2937_2940dupCTTT
  hgvsp: ENSP00000205214.6:p.Ser981LeufsTer19
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2391_*2394dupCTTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2518_2521dupCTTT
  hgvsp: ENSP00000409656.1:p.Phe841SerfsTer28
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2314_2317dupCTTT
  hgvsp: ENSP00000473564.1:p.Phe773SerfsTer28
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1977_*1980dupCTTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1482_1485dupCTTT
  hgvsp: ENSP00000392158.2:p.Ser496LeufsTer19
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21027
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser981LeufsTer19
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-57204927-A-AGAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204927
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204930
    reference: chr 4
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: AGAT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1975_*1977dupATC
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2389_*2391dupATC
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2935_2937dupATC
  hgvsp: ENSP00000205214.6:p.Ile979dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2635_2637dupATC
  hgvsp: ENSP00000423760.1:p.Ile879dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1480_1482dupATC
  hgvsp: ENSP00000392158.2:p.Ile494dup
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2312_2314dupATC
  hgvsp: ENSP00000473564.1:p.Asn771_Leu772insHis
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2516_2518dupATC
  hgvsp: ENSP00000409656.1:p.Asn839_Leu840insHis
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15593
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile979dup
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

4-57204930-TTGGTCCAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204930
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204922
    reference: chr 4
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsp: ENSP00000473564.1:p.Trp769SerfsTer28
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsp: ENSP00000423760.1:p.Ser876AsnfsTer20
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsp: ENSP00000205214.6:p.Ser976AsnfsTer20
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsp: ENSP00000409656.1:p.Trp837SerfsTer28
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsp: ENSP00000392158.2:p.Ser491AsnfsTer20
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser976AsnfsTer20
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: TTGGTCCAC
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

4-57204940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204940
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204940
    reference: chr 4
allele count: 2
allele frequency: 1.669755714738934e-5
allele num: 119778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1965C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2302C>T
  hgvsp: ENSP00000473564.1:p.Gln768Ter
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2506C>T
  hgvsp: ENSP00000409656.1:p.Gln836Ter
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2925C>T
  hgvsp: ENST00000205214.6:c.2925C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2379C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1470C>T
  hgvsp: ENST00000434343.2:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2625C>T
  hgvsp: ENST00000513376.1:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln768Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-57204945-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204945
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204945
    reference: chr 4
allele count: 416
allele frequency: 3.485196293627788e-3
allele num: 119362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2501T>C
  hgvsp: ENSP00000409656.1:p.Leu834Pro
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1960T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1465T>C
  hgvsp: ENSP00000392158.2:p.Ser489Pro
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2920T>C
  hgvsp: ENSP00000205214.6:p.Ser974Pro
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2374T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2297T>C
  hgvsp: ENSP00000473564.1:p.Leu766Pro
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2620T>C
  hgvsp: ENSP00000423760.1:p.Ser874Pro
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 15479
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 20540
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 4.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser974Pro
num of homozygotes: 2
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

4-57204946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204946
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204946
    reference: chr 4
allele count: 1
allele frequency: 8.379981899239097e-6
allele num: 119332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2373C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1464C>T
  hgvsp: ENST00000434343.2:c.1464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2619C>T
  hgvsp: ENST00000513376.1:c.2619C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2919C>T
  hgvsp: ENST00000205214.6:c.2919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2500C>T
  hgvsp: ENSP00000409656.1:p.Leu834Phe
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1959C>T
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2296C>T
  hgvsp: ENSP00000473564.1:p.Leu766Phe
  variant of: http://identifiers.org/hgnc/23993
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu766Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

4-57204949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204949
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204949
    reference: chr 4
allele count: 4
allele frequency: 3.368534519057484e-5
allele num: 118746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2616G>A
  hgvsp: ENST00000513376.1:c.2616G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2916G>A
  hgvsp: ENST00000205214.6:c.2916G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2370G>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1461G>A
  hgvsp: ENST00000434343.2:c.1461G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2497G>A
  hgvsp: ENSP00000409656.1:p.Val833Ile
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1956G>A
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2293G>A
  hgvsp: ENSP00000473564.1:p.Val765Ile
  variant of: http://identifiers.org/hgnc/23993
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val765Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

4-57204954-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204954
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204954
    reference: chr 4
allele count: 1
allele frequency: 8.507742045261188e-6
allele num: 117540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2288T>C
  hgvsp: ENSP00000473564.1:p.Leu763Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1456T>C
  hgvsp: ENSP00000392158.2:p.Trp486Arg
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2611T>C
  hgvsp: ENSP00000423760.1:p.Trp871Arg
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2911T>C
  hgvsp: ENSP00000205214.6:p.Trp971Arg
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2492T>C
  hgvsp: ENSP00000409656.1:p.Leu831Ser
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1951T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2365T>C
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp971Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

4-57204960-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204960
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204960
    reference: chr 4
allele count: 10799
allele frequency: 9.872559057997514e-2
allele num: 109384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-3T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-3T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-3T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-3T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-3T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-3T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-3T>C
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 11677
  bin: 3.25e1
  variant carriers: 1445
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 2.25e1
  variant carriers: 599
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.75e1
  variant carriers: 1598
genotype depth: GenotypeDepth
  all individuals: 15440
  bin: 2.75e1
  variant carriers: 1019
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 1.75e1
  variant carriers: 317
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 4.25e1
  variant carriers: 1440
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 7.5e0
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 528
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.75e1
  variant carriers: 1167
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 1.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 796
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 11610
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.25e1
  variant carriers: 37
hgvs: c.2908-3T>C
num of homozygotes: 653
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

4-57204961-T-TAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204961
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204964
    reference: chr 4
allele count: 3
allele frequency: 2.789919092346322e-5
allele num: 107530
alternate allele: TAAC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-7_1453-5dupGTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-7_2285-5dupGTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-7_2908-5dupGTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-7_2489-5dupGTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-7_*2362-5dupGTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-7_2608-5dupGTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-7_*1948-5dupGTT
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17389
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14035
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2908-7_2908-5dupGTT
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

4-57204963-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204963
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204963
    reference: chr 4
allele count: 1
allele frequency: 9.295580880849245e-6
allele num: 107578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-6T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-6T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-6T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-6T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-6T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-6T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-6T>C
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2908-6T>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

4-57204967-G-GTAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204967
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204971
    reference: chr 4
allele count: 2
allele frequency: 1.915415262028808e-5
allele num: 104416
alternate allele: GTAAT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-14_2908-11dupATTA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-14_1453-11dupATTA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-14_2608-11dupATTA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-14_2285-11dupATTA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-14_*1948-11dupATTA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-14_*2362-11dupATTA
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-14_2489-11dupATTA
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-57204968-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204968
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204968
    reference: chr 4
allele count: 1
allele frequency: 9.912571122697806e-6
allele num: 100882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-11A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-11A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-11A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-11A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-11A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-11A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-11A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

4-57204968-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204968
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204968
    reference: chr 4
allele count: 1
allele frequency: 9.912571122697806e-6
allele num: 100882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-11A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-11A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-11A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-11A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-11A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-11A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-11A>C
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25562
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-57204973-A-AAAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204973
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204977
    reference: chr 4
allele count: 2
allele frequency: 2.03985884176815e-5
allele num: 98046
alternate allele: AAAAT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-20_*2362-17dupATTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-20_2608-17dupATTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-20_*1948-17dupATTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-20_2489-17dupATTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-20_2908-17dupATTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-20_2285-17dupATTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-20_1453-17dupATTT
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

4-57204975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204975
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204975
    reference: chr 4
allele count: 1
allele frequency: 1.065643648763853e-5
allele num: 93840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-18T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-18T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-18T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-18T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-18T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-18T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-18T>C
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

4-57204978-A-AAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204978
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204981
    reference: chr 4
allele count: 286
allele frequency: 3.071239878868581e-3
allele num: 93122
alternate allele: AAAT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-24_*1948-22dupATT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-24_*2362-22dupATT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-24_2285-22dupATT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-24_2489-22dupATT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-24_2908-22dupATT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-24_1453-22dupATT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-24_2608-22dupATT
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 1.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 10355
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 20673
  bin: 1.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11262
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 2.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17632
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 4
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

4-57204981-T-TATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204981
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204984
    reference: chr 4
allele count: 1
allele frequency: 1.124732875941964e-5
allele num: 88910
alternate allele: TATA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-27_2908-25dupTAT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-27_2608-25dupTAT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-27_1453-25dupTAT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-27_2285-25dupTAT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-27_2489-25dupTAT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-27_*1948-25dupTAT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-27_*2362-25dupTAT
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23101
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5936
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-57204982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204982
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204982
    reference: chr 4
allele count: 1
allele frequency: 1.124530508512696e-5
allele num: 88926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-25T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-25T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-25T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-25T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-25T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-25T>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-25T>C
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4567
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-57204983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204983
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204983
    reference: chr 4
allele count: 2
allele frequency: 2.271230325467306e-5
allele num: 88058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-26A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-26A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-26A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-26A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-26A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-26A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-26A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  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: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

4-57204983-T-TAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204983
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204985
    reference: chr 4
allele count: 1
allele frequency: 1.135615162733653e-5
allele num: 88058
alternate allele: TAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-28_2285-27dupTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-28_2489-27dupTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-28_*2362-27dupTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-28_1453-27dupTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-28_2908-27dupTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-28_2608-27dupTT
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-28_*1948-27dupTT
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23502
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

4-57204986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204986
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204986
    reference: chr 4
allele count: 1
allele frequency: 1.18413262285376e-5
allele num: 84450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-29A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-29A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-29A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-29A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-29A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-29A>G
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-29A>G
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

4-57204994-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57204994
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 57204994
    reference: chr 4
allele count: 1
allele frequency: 1.300525412266556e-5
allele num: 76892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000421658
  ensembl transcript: ENST00000503808
  gene symbol: AASDH
  hgvsc: ENST00000503808.1:c.*2362-37A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000205214
  ensembl transcript: ENST00000205214
  gene symbol: AASDH
  hgvsc: ENST00000205214.6:c.2908-37A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000473564
  ensembl transcript: ENST00000602986
  gene symbol: AASDH
  hgvsc: ENST00000602986.1:c.2285-37A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000409656
  ensembl transcript: ENST00000451613
  gene symbol: AASDH
  hgvsc: ENST00000451613.1:c.2489-37A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000392158
  ensembl transcript: ENST00000434343
  gene symbol: AASDH
  hgvsc: ENST00000434343.2:c.1453-37A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000427298
  ensembl transcript: ENST00000514745
  gene symbol: AASDH
  hgvsc: ENST00000514745.1:c.*1948-37A>C
  variant of: http://identifiers.org/hgnc/23993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157426
  ensembl protein: ENSP00000423760
  ensembl transcript: ENST00000513376
  gene symbol: AASDH
  hgvsc: ENST00000513376.1:c.2608-37A>C
  variant of: http://identifiers.org/hgnc/23993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1073
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9643
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.957e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.356e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

FS
type: SiteQuality
SIO_000300: 8.9e-1

DP
type: SiteQuality
SIO_000300: 1.917827e6

GenotypeQuality
all individuals: 1074
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 9.25e1
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: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.672e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.446e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

FS
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.91807e6

MQRankSum
type: SiteQuality
SIO_000300: -1.704e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.737e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 8103
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
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: 10398
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: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.313e0

DP
type: SiteQuality
SIO_000300: 1.91833e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.871e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.574e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

GenotypeQuality
all individuals: 9647
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8106
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.734e1

FS
type: SiteQuality
SIO_000300: 6.948e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.611e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.918544e6

GenotypeQuality
all individuals: 1687
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9647
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32343
bin: 6.25e1
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: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.918605e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 9.77e0

GenotypeQuality
all individuals: 32347
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9647
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2866
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.918765e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.375e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

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

GenotypeQuality
all individuals: 2308
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1072
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 6
allele frequency: 5.76923076923077e-4
allele num: 10400
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: 66724
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 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: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

DP
type: SiteQuality
SIO_000300: 1.91999e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9662
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-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

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

MQ
type: SiteQuality
SIO_000300: 5.862e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 8.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.471e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.046e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.920113e6

GenotypeQuality
all individuals: 2345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9666
bin: 9.75e1
variant carriers: 6

Latino
type: Population
allele count: 5
allele frequency: 4.320027648176948e-4
allele num: 11574
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 6.182e0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.568e1

VQSLOD
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.325e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

DP
type: SiteQuality
SIO_000300: 1.920732e6

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

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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

FS
type: SiteQuality
SIO_000300: 5.861e0

DP
type: SiteQuality
SIO_000300: 1.92081e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.296e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.297e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

GenotypeQuality
all individuals: 2345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2886
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9662
bin: 9.75e1
variant carriers: 3

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
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 (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.920769e6

FS
type: SiteQuality
SIO_000300: 1.262e0

QD
type: SiteQuality
SIO_000300: 1.425e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

GenotypeQuality
all individuals: 32452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9662
bin: 9.75e1
variant carriers: 3

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

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

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

GenotypeQuality
all individuals: 2312
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.920799e6

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: -2.155e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.019e0

QD
type: SiteQuality
SIO_000300: 1.142e1

MQ
type: SiteQuality
SIO_000300: 5.643e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

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

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

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

GenotypeQuality
all individuals: 851
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28713
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
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: 66708
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

QD
type: SiteQuality
SIO_000300: 1.676e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.809999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.790166e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

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

GenotypeQuality
all individuals: 6557
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 28713
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 11

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 20615
bin: 9.75e1
variant carriers: 18785

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 981
allele frequency: 1.483666061705989e-1
allele num: 6612
num of homozygotes: 76

South Asian
type: Population
allele count: 3235
allele frequency: 1.959893372107113e-1
allele num: 16506
num of homozygotes: 355

European (Non-Finnish)
type: Population
allele count: 7919
allele frequency: 1.187113989326617e-1
allele num: 66708
num of homozygotes: 504

East Asian
type: Population
allele count: 1725
allele frequency: 1.997452524316813e-1
allele num: 8636
num of homozygotes: 176

Other
type: Population
allele count: 163
allele frequency: 1.795154185022027e-1
allele num: 908
num of homozygotes: 17

African
type: Population
allele count: 2210
allele frequency: 2.125408732448548e-1
allele num: 10398
num of homozygotes: 231

Latino
type: Population
allele count: 5150
allele frequency: 4.450397511234013e-1
allele num: 11572
num of homozygotes: 1175

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.809999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.676e1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

DP
type: SiteQuality
SIO_000300: 2.790166e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

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

GenotypeQuality
all individuals: 2843
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40836
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 1.841023e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.188e0

FS
type: SiteQuality
SIO_000300: 7.127e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.581e1

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 8.25e1
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: 6612
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: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.581e1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

FS
type: SiteQuality
SIO_000300: 7.127e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.841023e6

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.188e0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2843
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.581e1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.188e0

FS
type: SiteQuality
SIO_000300: 7.127e0

DP
type: SiteQuality
SIO_000300: 1.841023e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

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

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

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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: 908
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

QD
type: SiteQuality
SIO_000300: 9.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.575e-1

FS
type: SiteQuality
SIO_000300: 6.115e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

DP
type: SiteQuality
SIO_000300: 1.840771e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 10047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 7.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99538355466291e-5
allele num: 66718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.218e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

FS
type: SiteQuality
SIO_000300: 4.963e0

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.840893e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

GenotypeQuality
all individuals: 2834
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 10047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1205
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.381e1

FS
type: SiteQuality
SIO_000300: 6.119e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

DP
type: SiteQuality
SIO_000300: 1.84048e6

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 9.75e1
variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 1.840458e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
all individuals: 2830
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10042
bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.01e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.392e1

FS
type: SiteQuality
SIO_000300: 2.441e0

DP
type: SiteQuality
SIO_000300: 1.840468e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40853
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2821
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.586e1

MQ
type: SiteQuality
SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 5.896e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 1.839978e6

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

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

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

GenotypeQuality
all individuals: 40878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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: 10388
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.840029e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.129e0

QD
type: SiteQuality
SIO_000300: 1.488e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.739e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2240
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 9.75e1
variant carriers: 5

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: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.495128166691651e-5
allele num: 66710
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: 16510
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: 1.840079e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

FS
type: SiteQuality
SIO_000300: 2.452e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.487e1

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40885
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
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: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 1.599e1

DP
type: SiteQuality
SIO_000300: 1.839765e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: -1.343e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.938e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2242
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.994423457456377e-5
allele num: 66708
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.482e1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 2.429e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 1.839838e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

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

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

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10038
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 8.92e0

DP
type: SiteQuality
SIO_000300: 1.839148e6

FS
type: SiteQuality
SIO_000300: 2.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.332000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.83e-1

GenotypeQuality
all individuals: 1204
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2808
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

QD
type: SiteQuality
SIO_000300: 1.379e1

FS
type: SiteQuality
SIO_000300: 3.258e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 1.83924e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

GenotypeQuality
all individuals: 2184
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2808
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10037
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 3.258e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

QD
type: SiteQuality
SIO_000300: 1.379e1

DP
type: SiteQuality
SIO_000300: 1.83924e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

GenotypeQuality
all individuals: 2807
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2181
bin: 7.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40863
bin: 6.25e1
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: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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: 16508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.636e1

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.838734e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 2.694e0

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

GenotypeQuality
all individuals: 2238
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2807
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40863
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 10362
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.636e1

FS
type: SiteQuality
SIO_000300: 2.694e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

DP
type: SiteQuality
SIO_000300: 1.838734e6

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

GenotypeQuality
all individuals: 40721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 190
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
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: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.569e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.836497e6

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.122e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

GenotypeQuality
all individuals: 2168
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40692
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10005
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
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: 10260
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 2.727e0

MQ
type: SiteQuality
SIO_000300: 6.088e1

DP
type: SiteQuality
SIO_000300: 1.836175e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

QD
type: SiteQuality
SIO_000300: 1.811e1

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40678
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9999
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.178e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

DP
type: SiteQuality
SIO_000300: 1.835779e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.845e0

FS
type: SiteQuality
SIO_000300: 1.292e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e0

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

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

GenotypeQuality
all individuals: 239
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.751e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: 9.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.835542e6

QD
type: SiteQuality
SIO_000300: 1.371e1

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.790483649892304e-5
allele num: 10214
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: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.835056e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQ
type: SiteQuality
SIO_000300: 5.87e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

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

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40636
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 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: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 10182
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 2.569e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.372e1

DP
type: SiteQuality
SIO_000300: 1.834546e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
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: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

DP
type: SiteQuality
SIO_000300: 1.834005e6

QD
type: SiteQuality
SIO_000300: 3.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.166e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.934684241589612e-4
allele num: 10166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

DP
type: SiteQuality
SIO_000300: 1.834114e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

GenotypeQuality
all individuals: 2150
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.75e1
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: 10094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
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: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

FS
type: SiteQuality
SIO_000300: 1.1858e1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.547e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

DP
type: SiteQuality
SIO_000300: 1.83115e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.906875371507826e-5
allele num: 10094
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 1.83115e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.547e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 1.1858e1

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

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

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

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9932
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 1.830426e6

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

GenotypeQuality
all individuals: 466
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40360
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 514
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 2.347e0

DP
type: SiteQuality
SIO_000300: 1.829694e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 584
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 9.25e1
variant carriers: 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: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011050555538827e-5
allele num: 66422
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: 11538
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.828356e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

GenotypeQuality
all individuals: 2197
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507658907248824e-5
allele num: 66328
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.224e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

FS
type: SiteQuality
SIO_000300: 4.347e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

DP
type: SiteQuality
SIO_000300: 1.826189e6

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9881
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66292
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e0

FS
type: SiteQuality
SIO_000300: 3.361e0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.178e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

DP
type: SiteQuality
SIO_000300: 1.824598e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 9.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.9e1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9852
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 40053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 1.908013657360916e-3
allele num: 9958
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.735207357279195e-4
allele num: 11526
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: 3
allele frequency: 4.530079729403237e-5
allele num: 66224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 1.822814e6

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9855
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 9.75e1
variant carriers: 3

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

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

African
type: Population
allele count: 1
allele frequency: 1.004419445560466e-4
allele num: 9956
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510300247689241e-5
allele num: 66212
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.821618e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.164e1

FS
type: SiteQuality
SIO_000300: 2.029e0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9844
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2762
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022517757291824e-5
allele num: 66170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.856e1

FS
type: SiteQuality
SIO_000300: 6.543e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.204e1

DP
type: SiteQuality
SIO_000300: 1.818861e6

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 1158
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2154
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2762
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
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: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.81674e6

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: -1.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.473e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 4.913e0

QD
type: SiteQuality
SIO_000300: 1.82e1

MQ
type: SiteQuality
SIO_000300: 5.73e1

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2760
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39768
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512996641147457e-5
allele num: 66094
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.768e0

FS
type: SiteQuality
SIO_000300: 4.546e0

MQ
type: SiteQuality
SIO_000300: 5.204e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 5.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.493e0

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.24e-1

DP
type: SiteQuality
SIO_000300: 1.815241e6

GenotypeQuality
all individuals: 39284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2744
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036375781866764e-5
allele num: 65868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.442e1

FS
type: SiteQuality
SIO_000300: 4.209e0

DP
type: SiteQuality
SIO_000300: 1.80693e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.802e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 646
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 9.75e1
variant carriers: 412

GenotypeQuality
all individuals: 38592
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 246
allele frequency: 3.749428440786465e-3
allele num: 65610
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.481788281154831e-4
allele num: 16418
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 155
allele frequency: 2.347773401999394e-2
allele num: 6602
num of homozygotes: 2

Other
type: Population
allele count: 4
allele frequency: 4.484304932735426e-3
allele num: 892
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.408e1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

DP
type: SiteQuality
SIO_000300: 1.797121e6

FS
type: SiteQuality
SIO_000300: 1.396e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

GenotypeQuality
all individuals: 2031
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38888
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024590163934426e-4
allele num: 9760
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 1.788678e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 2.891e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

GenotypeQuality
all individuals: 1093
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2438
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.442598925256473e-4
allele num: 16376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.279e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.776208e6

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551782998665467e-5
allele num: 64442
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.069e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 1.749131e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

QD
type: SiteQuality
SIO_000300: 1.534e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

GenotypeQuality
all individuals: 4945
bin: 6.75e1
variant carriers: 20

GenotypeQuality
all individuals: 503
bin: 7.75e1
variant carriers: 35

GenotypeQuality
all individuals: 717
bin: 7.25e1
variant carriers: 16

GenotypeQuality
all individuals: 1087
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 26267
bin: 6.25e1
variant carriers: 21

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 50

GenotypeQuality
all individuals: 866
bin: 5.75e1
variant carriers: 11

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 25

GenotypeQuality
all individuals: 10325
bin: 9.75e1
variant carriers: 9908

GenotypeQuality
all individuals: 1309
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 23

East Asian
type: Population
allele count: 2201
allele frequency: 2.752626313156578e-1
allele num: 7996
num of homozygotes: 280

European (Non-Finnish)
type: Population
allele count: 4783
allele frequency: 8.034874344846123e-2
allele num: 59528
num of homozygotes: 177

European (Finnish)
type: Population
allele count: 1134
allele frequency: 1.796008869179601e-1
allele num: 6314
num of homozygotes: 81

Other
type: Population
allele count: 91
allele frequency: 1.065573770491803e-1
allele num: 854
num of homozygotes: 8

African
type: Population
allele count: 477
allele frequency: 5.698924731182796e-2
allele num: 8370
num of homozygotes: 11

South Asian
type: Population
allele count: 1477
allele frequency: 9.509399948493433e-2
allele num: 15532
num of homozygotes: 74

Latino
type: Population
allele count: 636
allele frequency: 5.894346617238184e-2
allele num: 10790
num of homozygotes: 22

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

QD
type: SiteQuality
SIO_000300: 1.64e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.24e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

DP
type: SiteQuality
SIO_000300: 1.613686e6

GenotypeQuality
all individuals: 871
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.412386964681795e-5
allele num: 58610
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.33184023889511e-5
allele num: 10716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.438673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.668e1

MQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

GenotypeQuality
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6120
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58642
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.31891321551042e-4
allele num: 7582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.725e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: -5.488e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.59e1

DP
type: SiteQuality
SIO_000300: 1.435828e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.258e0

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 512
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2064
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7238
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.330317945989091e-4
allele num: 15034
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: -1.972e0

DP
type: SiteQuality
SIO_000300: 1.337319e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

QD
type: SiteQuality
SIO_000300: 1.138e1

FS
type: SiteQuality
SIO_000300: 5.159e0

MQ
type: SiteQuality
SIO_000300: 5.477e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

GenotypeQuality
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.822024633773049e-5
allele num: 54884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14666
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

QD
type: SiteQuality
SIO_000300: 2.039e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

FS
type: SiteQuality
SIO_000300: 2.805e0

DP
type: SiteQuality
SIO_000300: 1.243221e6

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4058
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.822024633773049e-5
allele num: 54884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14666
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.243221e6

FS
type: SiteQuality
SIO_000300: 2.805e0

QD
type: SiteQuality
SIO_000300: 2.039e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 2999
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 351
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.875328182431926e-5
allele num: 53324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.978367062107467e-5
allele num: 14330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.245e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

QD
type: SiteQuality
SIO_000300: 1.133e1

DP
type: SiteQuality
SIO_000300: 1.154297e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.083e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 2131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3865
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.965949750324382e-5
allele num: 50866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.262e0

QD
type: SiteQuality
SIO_000300: 1.824e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.045522e6

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 352
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3651
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 170
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4433
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 9.75e1
variant carriers: 282

East Asian
type: Population
allele count: 2
allele frequency: 3.306878306878307e-4
allele num: 6048
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 6.297229219143577e-4
allele num: 9528
num of homozygotes: 0

South Asian
type: Population
allele count: 175
allele frequency: 1.259173981867895e-2
allele num: 13898
num of homozygotes: 3

Other
type: Population
allele count: 5
allele frequency: 6.648936170212766e-3
allele num: 752
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.355230274901821e-4
allele num: 5602
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.920560747663551e-4
allele num: 6848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 93
allele frequency: 1.843555485073147e-3
allele num: 50446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

DP
type: SiteQuality
SIO_000300: 1.015621e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.596e1

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.702e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
all individuals: 12072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4535
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2822
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.463800567248842e-5
allele num: 13398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.077e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

DP
type: SiteQuality
SIO_000300: 9.18344e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

QD
type: SiteQuality
SIO_000300: 2.781e1

GenotypeQuality
all individuals: 882
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4953
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.081338717062815e-5
allele num: 48046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.477e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

MQ
type: SiteQuality
SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 9.16787e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 1.903e1

GenotypeQuality
all individuals: 681
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3070
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4769
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23096
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 923
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13234
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.187226596675416e-4
allele num: 9144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47598
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 4.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 8.96561e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.242e1

GenotypeQuality
all individuals: 4769
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 11347
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 447
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.799208348326736e-4
allele num: 5558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.242e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 4.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.96561e5

GenotypeQuality
all individuals: 1603
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5532
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.194040984685594e-5
allele num: 45578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.32263e5

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

QD
type: SiteQuality
SIO_000300: 7.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

GenotypeQuality
all individuals: 3699
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6597
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7836
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 1.75e1
variant carriers: 0