17-43213609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213609
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213609
    reference: chr 17
allele count: 74
allele frequency: 6.824176026854055e-4
allele num: 108438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.32+10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.88+10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.88+10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.88+10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.137+10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.88+10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.391+10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.88+10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.440C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.88+10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.88+10C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14265
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12163
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

17-43213610-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213610
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213610
    reference: chr 17
allele count: 1
allele frequency: 9.230542017427263e-6
allele num: 108336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.441G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.391+11G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.88+11G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.32+11G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.88+11G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.137+11G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.88+11G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+11G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.88+11G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.88+11G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.88+11G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.88+11G>C
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14325
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

17-43213611-G-GGGACTCGCATTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213623
    reference: chr 17
allele count: 1
allele frequency: 9.218968950512574e-6
allele num: 108472
alternate allele: GGGACTCGCATTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-43213612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213612
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213612
    reference: chr 17
allele count: 1
allele frequency: 9.230201218386561e-6
allele num: 108340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.88+13G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.88+13G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.88+13G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+13G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.88+13G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.443G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.88+13G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.88+13G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.88+13G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.32+13G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.391+13G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.137+13G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

17-43213618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213618
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213618
    reference: chr 17
allele count: 2
allele frequency: 1.870347510567463e-5
allele num: 106932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.88+19G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.32+19G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.88+19G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.88+19G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+19G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.88+19G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.391+19G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.449G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.88+19G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.88+19G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.88+19G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.137+19G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-43213619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213619
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213619
    reference: chr 17
allele count: 1
allele frequency: 9.337765659433012e-6
allele num: 107092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+20C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.88+20C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.88+20C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.391+20C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.137+20C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.88+20C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.88+20C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.450C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.88+20C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.32+20C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.88+20C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.88+20C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-43213630-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213630
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213630
    reference: chr 17
allele count: 1
allele frequency: 9.501729314735282e-6
allele num: 105244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.137+31G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.391+31G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+31G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.461G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.88+31G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.88+31G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.88+31G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.88+31G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.32+31G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.88+31G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.88+31G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.88+31G>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS

17-43213634-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213634
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213634
    reference: chr 17
allele count: 1
allele frequency: 9.479751251327165e-6
allele num: 105488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.88+35T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+35T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.88+35T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.137+35T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.88+35T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.465T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.88+35T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.88+35T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.32+35T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.391+35T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.88+35T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.88+35T>G
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-43213637-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213637
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213637
    reference: chr 17
allele count: 1
allele frequency: 9.543988241806486e-6
allele num: 104778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.88+38G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.88+38G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.391+38G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+38G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.32+38G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.137+38G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.88+38G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.88+38G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.468G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.88+38G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.88+38G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.88+38G>C
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14058
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-43213641-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213641
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213641
    reference: chr 17
allele count: 19
allele frequency: 1.812631177256249e-4
allele num: 104820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.88+42G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.391+42G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+42G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.88+42G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.88+42G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.472G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.137+42G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.88+42G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.88+42G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.88+42G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.88+42G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.32+42G>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13897
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12770
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-43213819-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213818
    reference: chr 17
allele count: 2
allele frequency: 1.726251100485076e-5
allele num: 115858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.652delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.392-46delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.89-46delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.89-46delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.89-46delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+222delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.138-46delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.89-46delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.89-46delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.33-46delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.89-46delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.89-46delG
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: TG
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

17-43213827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213827
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213827
    reference: chr 17
allele count: 2
allele frequency: 1.724256845299676e-5
allele num: 115992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.658G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.89-40G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.89-40G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.89-40G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.88+228G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.33-40G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.138-40G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.89-40G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.89-40G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.392-40G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.89-40G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.89-40G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

17-43213830-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213830
    reference: chr 17
allele count: 2
allele frequency: 1.722207870489968e-5
allele num: 116130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-229G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.138-37G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.33-37G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.89-37G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.89-37G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.661G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.392-37G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.89-37G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.89-37G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.89-37G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.89-37G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.89-37G>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-43213831-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213831
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213831
    reference: chr 17
allele count: 1
allele frequency: 8.616678442793871e-6
allele num: 116054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.89-36T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.33-36T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.138-36T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.89-36T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.662T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.392-36T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.89-36T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.89-36T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-228T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.89-36T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.89-36T>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.89-36T>G
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

17-43213843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213843
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213843
    reference: chr 17
allele count: 1
allele frequency: 8.576917798819816e-6
allele num: 116592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.138-24C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.89-24C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.89-24C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.392-24C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.89-24C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.33-24C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.89-24C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.89-24C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.89-24C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.89-24C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.674C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-216C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

17-43213844-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213844
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213843
    reference: chr 17
allele count: 1
allele frequency: 8.57368222504201e-6
allele num: 116636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.89-21delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.89-21delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.89-21delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.677delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.392-21delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-213delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.33-21delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.89-21delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.138-21delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.89-21delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.89-21delG
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.89-21delG
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TG
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-43213848-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213848
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213848
    reference: chr 17
allele count: 1
allele frequency: 8.550224015869215e-6
allele num: 116956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.392-19T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.679T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.89-19T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-211T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.89-19T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.89-19T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.89-19T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.33-19T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.138-19T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.89-19T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.89-19T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.89-19T>A
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-43213857-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213857
    reference: chr 17
allele count: 1
allele frequency: 8.503545978673106e-6
allele num: 117598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.89-10C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.89-10C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.33-10C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.89-10C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.138-10C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.89-10C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.688C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.89-10C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-202C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.89-10C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.392-10C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.89-10C>G
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

17-43213861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213861
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213861
    reference: chr 17
allele count: 4
allele frequency: 3.391555027980329e-5
allele num: 117940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.89-6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.89-6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.138-6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.89-6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.392-6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.89-6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.89-6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.89-6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.33-6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-198G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.89-6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.692G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.89-6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-43213872-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213871
    reference: chr 17
allele count: 1
allele frequency: 8.410570404884859e-6
allele num: 118898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.398delA
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.95delA
  hgvsp: ENSP00000405969.1:p.Tyr32SerfsTer48
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.144delA
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.95delA
  hgvsp: ENSP00000366154.3:p.Tyr32SerfsTer48
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-186delA
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.95delA
  hgvsp: ENSP00000465610.1:p.Tyr32SerfsTer48
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.95delA
  hgvsp: ENSP00000381367.2:p.Tyr32SerfsTer48
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.39delA
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.95delA
  hgvsp: ENSP00000314440.8:p.Tyr32SerfsTer48
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.95delA
  hgvsp: ENSP00000466305.1:p.Tyr32SerfsTer48
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.95delA
  hgvsp: ENSP00000465484.1:p.Tyr32SerfsTer48
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.704delA
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr32SerfsTer48
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: TA
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-43213875-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213875
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213875
    reference: chr 17
allele count: 2
allele frequency: 1.678331067586392e-5
allele num: 119166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.97C>G
  hgvsp: ENSP00000465484.1:p.Arg33Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.97C>G
  hgvsp: ENSP00000466305.1:p.Arg33Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.97C>G
  hgvsp: ENSP00000314440.8:p.Arg33Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.97C>G
  hgvsp: ENSP00000465610.1:p.Arg33Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.97C>G
  hgvsp: ENSP00000381367.2:p.Arg33Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.400C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.146C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.706C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.97C>G
  hgvsp: ENSP00000366154.3:p.Arg33Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.97C>G
  hgvsp: ENSP00000405969.1:p.Arg33Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.41C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-184C>G
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg33Gly
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

17-43213875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213875
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213875
    reference: chr 17
allele count: 1
allele frequency: 8.391655337931961e-6
allele num: 119166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.97C>T
  hgvsp: ENSP00000366154.3:p.Arg33Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.97C>T
  hgvsp: ENSP00000465484.1:p.Arg33Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.146C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.97C>T
  hgvsp: ENSP00000465610.1:p.Arg33Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.400C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-184C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.97C>T
  hgvsp: ENSP00000405969.1:p.Arg33Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.97C>T
  hgvsp: ENSP00000314440.8:p.Arg33Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.97C>T
  hgvsp: ENSP00000466305.1:p.Arg33Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.41C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.97C>T
  hgvsp: ENSP00000381367.2:p.Arg33Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.706C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg33Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-43213876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213876
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213876
    reference: chr 17
allele count: 4
allele frequency: 3.352217491870872e-5
allele num: 119324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.98G>A
  hgvsp: ENSP00000465484.1:p.Arg33His
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.98G>A
  hgvsp: ENSP00000405969.1:p.Arg33His
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.98G>A
  hgvsp: ENSP00000381367.2:p.Arg33His
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.98G>A
  hgvsp: ENSP00000466305.1:p.Arg33His
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.147G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.98G>A
  hgvsp: ENSP00000314440.8:p.Arg33His
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-183G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.707G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.98G>A
  hgvsp: ENSP00000366154.3:p.Arg33His
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.401G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.98G>A
  hgvsp: ENSP00000465610.1:p.Arg33His
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.42G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg33His
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-43213878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213878
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213878
    reference: chr 17
allele count: 8
allele frequency: 6.69478476266988e-5
allele num: 119496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.100C>T
  hgvsp: ENSP00000366154.3:p.Pro34Ser
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.100C>T
  hgvsp: ENSP00000465610.1:p.Pro34Ser
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.100C>T
  hgvsp: ENSP00000465484.1:p.Pro34Ser
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.44C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.100C>T
  hgvsp: ENSP00000314440.8:p.Pro34Ser
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.403C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.100C>T
  hgvsp: ENSP00000381367.2:p.Pro34Ser
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.149C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-181C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.100C>T
  hgvsp: ENSP00000466305.1:p.Pro34Ser
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.100C>T
  hgvsp: ENSP00000405969.1:p.Pro34Ser
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.709C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro34Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-43213885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213885
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213885
    reference: chr 17
allele count: 4
allele frequency: 3.337616607980241e-5
allele num: 119846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.107A>G
  hgvsp: ENSP00000465610.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.107A>G
  hgvsp: ENSP00000381367.2:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.107A>G
  hgvsp: ENSP00000314440.8:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.107A>G
  hgvsp: ENSP00000366154.3:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.107A>G
  hgvsp: ENSP00000465484.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.51A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.107A>G
  hgvsp: ENSP00000405969.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.107A>G
  hgvsp: ENSP00000466305.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.716A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-174A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.410A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.156A>G
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr36Cys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-43213890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213890
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213890
    reference: chr 17
allele count: 1
allele frequency: 8.330695279828055e-6
allele num: 120038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.112G>A
  hgvsp: ENSP00000466305.1:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.112G>A
  hgvsp: ENSP00000381367.2:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.161G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.112G>A
  hgvsp: ENSP00000405969.1:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.721G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.56G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.112G>A
  hgvsp: ENSP00000366154.3:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.112G>A
  hgvsp: ENSP00000314440.8:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.112G>A
  hgvsp: ENSP00000465484.1:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.112G>A
  hgvsp: ENSP00000465610.1:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-169G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.415G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu38Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-43213891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213891
    reference: chr 17
allele count: 1
allele frequency: 8.329723786359244e-6
allele num: 120052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.722A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.162A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.113A>G
  hgvsp: ENSP00000381367.2:p.Glu38Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.113A>G
  hgvsp: ENSP00000466305.1:p.Glu38Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.113A>G
  hgvsp: ENSP00000314440.8:p.Glu38Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.113A>G
  hgvsp: ENSP00000405969.1:p.Glu38Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.113A>G
  hgvsp: ENSP00000366154.3:p.Glu38Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.113A>G
  hgvsp: ENSP00000465484.1:p.Glu38Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.113A>G
  hgvsp: ENSP00000465610.1:p.Glu38Gly
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.416A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.57A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-168A>G
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu38Gly
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-43213893-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213893
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213893
    reference: chr 17
allele count: 1
allele frequency: 8.327226700419692e-6
allele num: 120088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.115A>C
  hgvsp: ENSP00000314440.8:p.Met39Leu
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.724A>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.418A>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.115A>C
  hgvsp: ENSP00000466305.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.164A>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.115A>C
  hgvsp: ENSP00000405969.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-166A>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.115A>C
  hgvsp: ENSP00000465484.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.115A>C
  hgvsp: ENSP00000465610.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.115A>C
  hgvsp: ENSP00000366154.3:p.Met39Leu
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.115A>C
  hgvsp: ENSP00000381367.2:p.Met39Leu
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.59A>C
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met39Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-43213894-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213894
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213894
    reference: chr 17
allele count: 2
allele frequency: 1.665278934221482e-5
allele num: 120100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.116T>C
  hgvsp: ENSP00000466305.1:p.Met39Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.116T>C
  hgvsp: ENSP00000405969.1:p.Met39Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.116T>C
  hgvsp: ENSP00000465610.1:p.Met39Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.116T>C
  hgvsp: ENSP00000465484.1:p.Met39Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.165T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.60T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.116T>C
  hgvsp: ENSP00000314440.8:p.Met39Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.725T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.116T>C
  hgvsp: ENSP00000366154.3:p.Met39Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-165T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.419T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.116T>C
  hgvsp: ENSP00000381367.2:p.Met39Thr
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met39Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-43213898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213898
    reference: chr 17
allele count: 1
allele frequency: 8.322237017310253e-6
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.64G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.120G>A
  hgvsp: ENST00000591859.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-161G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.169G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.423G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.120G>A
  hgvsp: ENST00000431281.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.120G>A
  hgvsp: ENST00000586346.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.729G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.120G>A
  hgvsp: ENST00000321854.8:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.120G>A
  hgvsp: ENST00000592162.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.120G>A
  hgvsp: ENST00000398322.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.120G>A
  hgvsp: ENST00000376955.4:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu40Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum

17-43213913-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213913
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213913
    reference: chr 17
allele count: 5
allele frequency: 4.1583499667332e-5
allele num: 120240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.79C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.744C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.135C>G
  hgvsp: ENSP00000366154.3:p.Tyr45Ter
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.184C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.135C>G
  hgvsp: ENSP00000381367.2:p.Tyr45Ter
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.135C>G
  hgvsp: ENSP00000405969.1:p.Tyr45Ter
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.135C>G
  hgvsp: ENSP00000465484.1:p.Tyr45Ter
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.135C>G
  hgvsp: ENSP00000465610.1:p.Tyr45Ter
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-146C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.438C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.135C>G
  hgvsp: ENSP00000314440.8:p.Tyr45Ter
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.135C>G
  hgvsp: ENSP00000466305.1:p.Tyr45Ter
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr45Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-43213918-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213918
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213918
    reference: chr 17
allele count: 2
allele frequency: 1.663229326059477e-5
allele num: 120248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.140A>C
  hgvsp: ENSP00000381367.2:p.Lys47Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.140A>C
  hgvsp: ENSP00000405969.1:p.Lys47Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.140A>C
  hgvsp: ENSP00000465484.1:p.Lys47Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.189A>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.443A>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.140A>C
  hgvsp: ENSP00000465610.1:p.Lys47Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.749A>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.140A>C
  hgvsp: ENSP00000466305.1:p.Lys47Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.84A>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.140A>C
  hgvsp: ENSP00000366154.3:p.Lys47Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.140A>C
  hgvsp: ENSP00000314440.8:p.Lys47Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-141A>C
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys47Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-43213922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213922
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213922
    reference: chr 17
allele count: 1
allele frequency: 8.316284949187499e-6
allele num: 120246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.144G>A
  hgvsp: ENST00000398322.3:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.88G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.144G>A
  hgvsp: ENST00000586346.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.144G>A
  hgvsp: ENST00000591859.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.144G>A
  hgvsp: ENST00000431281.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.144G>A
  hgvsp: ENST00000321854.8:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.447G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.753G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.144G>A
  hgvsp: ENST00000376955.4:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.193G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-137G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.144G>A
  hgvsp: ENST00000592162.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln48Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

17-43213950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213950
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213950
    reference: chr 17
allele count: 1
allele frequency: 8.319467554076538e-6
allele num: 120200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.172C>T
  hgvsp: ENSP00000465484.1:p.Arg58Trp
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.172C>T
  hgvsp: ENSP00000366154.3:p.Arg58Trp
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.172C>T
  hgvsp: ENSP00000381367.2:p.Arg58Trp
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.172C>T
  hgvsp: ENSP00000405969.1:p.Arg58Trp
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.475C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.172C>T
  hgvsp: ENSP00000466305.1:p.Arg58Trp
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.221C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.781C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.116C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.172C>T
  hgvsp: ENSP00000314440.8:p.Arg58Trp
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.172C>T
  hgvsp: ENSP00000465610.1:p.Arg58Trp
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-109C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg58Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-43213951-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213951
    reference: chr 17
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.173G>A
  hgvsp: ENSP00000466305.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.173G>A
  hgvsp: ENSP00000314440.8:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.476G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.173G>A
  hgvsp: ENSP00000465484.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.173G>A
  hgvsp: ENSP00000381367.2:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.173G>A
  hgvsp: ENSP00000366154.3:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.173G>A
  hgvsp: ENSP00000465610.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.222G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-108G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.117G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.173G>A
  hgvsp: ENSP00000405969.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.782G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg58Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

17-43213955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213955
    reference: chr 17
allele count: 4
allele frequency: 3.327897766980598e-5
allele num: 120196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.177C>T
  hgvsp: ENST00000376955.4:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.177C>T
  hgvsp: ENST00000592162.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.121C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.177C>T
  hgvsp: ENST00000586346.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.177C>T
  hgvsp: ENST00000398322.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.786C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.226C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.177C>T
  hgvsp: ENST00000591859.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.177C>T
  hgvsp: ENST00000321854.8:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.177C>T
  hgvsp: ENST00000431281.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.480C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-104C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro59Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-43213956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213956
    reference: chr 17
allele count: 2
allele frequency: 1.663893510815308e-5
allele num: 120200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.787G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.122G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.178G>A
  hgvsp: ENSP00000405969.1:p.Gly60Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.178G>A
  hgvsp: ENSP00000381367.2:p.Gly60Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.481G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.178G>A
  hgvsp: ENSP00000465484.1:p.Gly60Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.178G>A
  hgvsp: ENSP00000314440.8:p.Gly60Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.178G>A
  hgvsp: ENSP00000466305.1:p.Gly60Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.178G>A
  hgvsp: ENSP00000366154.3:p.Gly60Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-103G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.227G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.178G>A
  hgvsp: ENSP00000465610.1:p.Gly60Arg
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly60Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-43213958-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213958
    reference: chr 17
allele count: 2
allele frequency: 1.663506005256679e-5
allele num: 120228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.180G>C
  hgvsp: ENST00000321854.8:c.180G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.483G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.229G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.180G>C
  hgvsp: ENST00000376955.4:c.180G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.789G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.180G>C
  hgvsp: ENST00000586346.1:c.180G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-101G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.180G>C
  hgvsp: ENST00000398322.3:c.180G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.124G>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.180G>C
  hgvsp: ENST00000592162.1:c.180G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.180G>C
  hgvsp: ENST00000431281.1:c.180G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.180G>C
  hgvsp: ENST00000591859.1:c.180G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly60Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-43213969-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213969
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213969
    reference: chr 17
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-90C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.191C>G
  hgvsp: ENSP00000314440.8:p.Pro64Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.191C>G
  hgvsp: ENSP00000465610.1:p.Pro64Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.135C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.191C>G
  hgvsp: ENSP00000366154.3:p.Pro64Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.494C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.191C>G
  hgvsp: ENSP00000381367.2:p.Pro64Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.800C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.191C>G
  hgvsp: ENSP00000405969.1:p.Pro64Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.191C>G
  hgvsp: ENSP00000465484.1:p.Pro64Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.191C>G
  hgvsp: ENSP00000466305.1:p.Pro64Arg
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.240C>G
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro64Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-43213972-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213972
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213972
    reference: chr 17
allele count: 3
allele frequency: 2.494968480231533e-5
allele num: 120242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.194T>C
  hgvsp: ENSP00000366154.3:p.Ile65Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.194T>C
  hgvsp: ENSP00000465610.1:p.Ile65Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.803T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.243T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.194T>C
  hgvsp: ENSP00000465484.1:p.Ile65Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.138T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.194T>C
  hgvsp: ENSP00000314440.8:p.Ile65Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.194T>C
  hgvsp: ENSP00000405969.1:p.Ile65Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.194T>C
  hgvsp: ENSP00000381367.2:p.Ile65Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.497T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-87T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.194T>C
  hgvsp: ENSP00000466305.1:p.Ile65Thr
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile65Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

17-43213976-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213976
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213976
    reference: chr 17
allele count: 2
allele frequency: 1.6632569898375e-5
allele num: 120246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.501A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.198A>G
  hgvsp: ENST00000398322.3:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-83A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.807A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.198A>G
  hgvsp: ENST00000376955.4:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.198A>G
  hgvsp: ENST00000321854.8:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.247A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.198A>G
  hgvsp: ENST00000591859.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.198A>G
  hgvsp: ENST00000592162.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.198A>G
  hgvsp: ENST00000586346.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.198A>G
  hgvsp: ENST00000431281.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.142A>G
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly66Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-43213991-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213991
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213991
    reference: chr 17
allele count: 6
allele frequency: 4.988858216649483e-5
allele num: 120268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.209+4A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.153+4A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.209+4A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-68A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.209+4A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.209+4A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.209+4A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.209+4A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.209+4A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.822A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.516A>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.262A>T
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.209+4A>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-43213993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43213993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43213993
    reference: chr 17
allele count: 5
allele frequency: 4.158419135381493e-5
allele num: 120238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.209+6C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.824C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.209+6C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.518C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.209+6C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.209+6C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-66C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.209+6C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.209+6C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.264C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.153+6C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.209+6C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.209+6C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS

17-43214001-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214001
    reference: chr 17
allele count: 2
allele frequency: 1.66461364317342e-5
allele num: 120148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.832T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.209+14T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.526T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.272T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.209+14T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.209+14T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-58T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.209+14T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.209+14T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.153+14T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.209+14T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.209+14T>A
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-43214001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214001
    reference: chr 17
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.209+14T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.832T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.209+14T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.209+14T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.209+14T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.209+14T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.272T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.526T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.209+14T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-58T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.209+14T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.153+14T>C
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

17-43214002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214002
    reference: chr 17
allele count: 1
allele frequency: 8.322237017310253e-6
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.527G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.273G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.833G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.209+15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.153+15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.209+15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.209+15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.209+15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.209+15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.209+15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.209+15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-57G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-43214018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214018
    reference: chr 17
allele count: 2
allele frequency: 1.663174001264012e-5
allele num: 120252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.209+31C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.209+31C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.543C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.289C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.209+31C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.849C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.209+31C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.153+31C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.209+31C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.209+31C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.209+31C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-41C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

17-43214025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214025
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214025
    reference: chr 17
allele count: 7
allele frequency: 5.819173344860839e-5
allele num: 120292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.550G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-34G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.296G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.154-34G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.210-34G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.210-34G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.210-34G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.210-34G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.210-34G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.856G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.210-34G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.210-34G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

17-43214026-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214026
    reference: chr 17
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.857T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.210-33T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.210-33T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.210-33T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.210-33T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.551T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.210-33T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.154-33T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.210-33T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.297T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.210-33T>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-33T>A
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11380
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

17-43214027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214027
    reference: chr 17
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.298C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.552C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.210-32C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.154-32C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.210-32C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.210-32C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.210-32C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.210-32C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.210-32C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.858C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.210-32C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-32C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-43214036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214036
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214036
    reference: chr 17
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.867C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.210-23C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-23C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.210-23C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.210-23C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.154-23C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.210-23C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.307C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.561C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.210-23C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.210-23C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.210-23C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

17-43214040-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214040
    reference: chr 17
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.210-19C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.210-19C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.210-19C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-19C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.565C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.210-19C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.154-19C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.210-19C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.210-19C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.871C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.210-19C>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.311C>G
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-43214042-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214042
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214042
    reference: chr 17
allele count: 2
allele frequency: 1.661460756296936e-5
allele num: 120376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.567C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.210-17C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.210-17C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.210-17C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.313C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.210-17C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.210-17C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.873C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.210-17C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.154-17C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.210-17C>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-17C>A
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-43214044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214044
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214044
    reference: chr 17
allele count: 7
allele frequency: 5.815016032829919e-5
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.210-15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.154-15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.210-15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.875G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.210-15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.569G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.315G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.210-15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.210-15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.210-15G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.210-15G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

17-43214049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214049
    reference: chr 17
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.574C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.320C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.210-10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.154-10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.210-10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.210-10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.210-10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.210-10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.210-10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.880C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.210-10C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-10C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27411
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-43214052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214052
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214052
    reference: chr 17
allele count: 6
allele frequency: 4.983388704318937e-5
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.210-7C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.210-7C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.210-7C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.89-7C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.210-7C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.577C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.323C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.210-7C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.883C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.210-7C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.154-7C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.210-7C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.210-7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

17-43214060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214060
    reference: chr 17
allele count: 2
allele frequency: 1.660357308892874e-5
allele num: 120456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.331G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.155G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.211G>A
  hgvsp: ENSP00000466305.1:p.Asp71Asn
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.211G>A
  hgvsp: ENSP00000366154.3:p.Asp71Asn
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.585G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.211G>A
  hgvsp: ENSP00000405969.1:p.Asp71Asn
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.211G>A
  hgvsp: ENSP00000465610.1:p.Asp71Asn
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.211G>A
  hgvsp: ENSP00000314440.8:p.Asp71Asn
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.211G>A
  hgvsp: ENSP00000465484.1:p.Asp71Asn
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.211G>A
  hgvsp: ENSP00000381367.2:p.Asp71Asn
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.891G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.90G>A
  hgvsp: ENST00000589798.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp71Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-43214062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214062
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214062
    reference: chr 17
allele count: 3
allele frequency: 2.490825459557297e-5
allele num: 120442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.92C>T
  hgvsp: ENSP00000466505.1:p.Thr31Met
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.213C>T
  hgvsp: ENST00000592162.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.213C>T
  hgvsp: ENST00000591859.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.587C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.213C>T
  hgvsp: ENST00000586346.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.213C>T
  hgvsp: ENST00000376955.4:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.213C>T
  hgvsp: ENST00000398322.3:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.213C>T
  hgvsp: ENST00000431281.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.893C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.213C>T
  hgvsp: ENST00000321854.8:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.157C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.333C>T
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr31Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-43214063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214063
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214063
    reference: chr 17
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.214G>A
  hgvsp: ENSP00000381367.2:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.93G>A
  hgvsp: ENST00000589798.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.214G>A
  hgvsp: ENSP00000465484.1:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.214G>A
  hgvsp: ENSP00000405969.1:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.588G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.214G>A
  hgvsp: ENSP00000465610.1:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.214G>A
  hgvsp: ENSP00000314440.8:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.214G>A
  hgvsp: ENSP00000466305.1:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.894G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.334G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.158G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.214G>A
  hgvsp: ENSP00000366154.3:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala72Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-43214079-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214079
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214079
    reference: chr 17
allele count: 3
allele frequency: 2.490494612229989e-5
allele num: 120458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.230G>T
  hgvsp: ENSP00000465610.1:p.Gly77Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.230G>T
  hgvsp: ENSP00000465484.1:p.Gly77Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.109G>T
  hgvsp: ENSP00000466505.1:p.Ala37Ser
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.230G>T
  hgvsp: ENSP00000366154.3:p.Gly77Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.230G>T
  hgvsp: ENSP00000466305.1:p.Gly77Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.910G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.230G>T
  hgvsp: ENSP00000314440.8:p.Gly77Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.604G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.230G>T
  hgvsp: ENSP00000381367.2:p.Gly77Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.174G>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.230G>T
  hgvsp: ENSP00000405969.1:p.Gly77Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.350G>T
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly77Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-43214085-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214085
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214085
    reference: chr 17
allele count: 2
allele frequency: 1.66024704476026e-5
allele num: 120464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.236T>C
  hgvsp: ENSP00000366154.3:p.Met79Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.610T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.236T>C
  hgvsp: ENSP00000465484.1:p.Met79Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.916T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.236T>C
  hgvsp: ENSP00000314440.8:p.Met79Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.356T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.236T>C
  hgvsp: ENSP00000465610.1:p.Met79Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.115T>C
  hgvsp: ENSP00000466505.1:p.Ter39ArgextTer13
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.236T>C
  hgvsp: ENSP00000466305.1:p.Met79Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.236T>C
  hgvsp: ENSP00000405969.1:p.Met79Thr
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.180T>C
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.236T>C
  hgvsp: ENSP00000381367.2:p.Met79Thr
  variant of: http://identifiers.org/hgnc/23337
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter39ArgextTer13
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

17-43214093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214093
    reference: chr 17
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.618G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.244G>A
  hgvsp: ENSP00000465610.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.244G>A
  hgvsp: ENSP00000314440.8:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.244G>A
  hgvsp: ENSP00000381367.2:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.924G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.244G>A
  hgvsp: ENSP00000466305.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.244G>A
  hgvsp: ENSP00000405969.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.244G>A
  hgvsp: ENSP00000465484.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.188G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.364G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.244G>A
  hgvsp: ENSP00000366154.3:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu82Lys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

17-43214096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214096
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214096
    reference: chr 17
allele count: 1
allele frequency: 8.302751531857658e-6
allele num: 120442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.247G>A
  hgvsp: ENSP00000466305.1:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.247G>A
  hgvsp: ENSP00000381367.2:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.927G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.247G>A
  hgvsp: ENSP00000405969.1:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.247G>A
  hgvsp: ENSP00000366154.3:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.247G>A
  hgvsp: ENSP00000314440.8:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.367G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.247G>A
  hgvsp: ENSP00000465484.1:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.191G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.247G>A
  hgvsp: ENSP00000465610.1:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.621G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu83Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-43214114-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214114
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214114
    reference: chr 17
allele count: 3
allele frequency: 2.492398185534121e-5
allele num: 120366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.265A>G
  hgvsp: ENSP00000381367.2:p.Ile89Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.*27A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.209A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.265A>G
  hgvsp: ENSP00000405969.1:p.Ile89Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.945A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.265A>G
  hgvsp: ENSP00000465484.1:p.Ile89Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.265A>G
  hgvsp: ENSP00000465610.1:p.Ile89Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.265A>G
  hgvsp: ENSP00000366154.3:p.Ile89Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.265A>G
  hgvsp: ENSP00000466305.1:p.Ile89Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.265A>G
  hgvsp: ENSP00000314440.8:p.Ile89Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.639A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.385A>G
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile89Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

17-43214123-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214123
    reference: chr 17
allele count: 3
allele frequency: 2.494138773881379e-5
allele num: 120282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.954A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.274A>G
  hgvsp: ENSP00000465610.1:p.Met92Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.274A>G
  hgvsp: ENSP00000366154.3:p.Met92Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.274A>G
  hgvsp: ENSP00000381367.2:p.Met92Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.648A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.274A>G
  hgvsp: ENSP00000314440.8:p.Met92Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.*36A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.274A>G
  hgvsp: ENSP00000405969.1:p.Met92Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.218A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.274A>G
  hgvsp: ENSP00000465484.1:p.Met92Val
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.394A>G
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.274A>G
  hgvsp: ENSP00000466305.1:p.Met92Val
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met92Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

17-43214129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214129
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214129
    reference: chr 17
allele count: 4
allele frequency: 3.327897766980598e-5
allele num: 120196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.654C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.280C>T
  hgvsp: ENST00000592162.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.280C>T
  hgvsp: ENST00000398322.3:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.280C>T
  hgvsp: ENST00000586346.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.224C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.400C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.280C>T
  hgvsp: ENST00000376955.4:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.280C>T
  hgvsp: ENST00000431281.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.960C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.280C>T
  hgvsp: ENST00000321854.8:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.280C>T
  hgvsp: ENST00000591859.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13420
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu94Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-43214132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214132
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43214132
    reference: chr 17
allele count: 15
allele frequency: 1.248730457368342e-4
allele num: 120122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000589752
  gene symbol: ACBD4
  hgvsc: ENST00000589752.1:n.403G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466505
  ensembl transcript: ENST00000589798
  gene symbol: ACBD4
  hgvsc: ENST00000589798.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465610
  ensembl transcript: ENST00000591859
  gene symbol: ACBD4
  hgvsc: ENST00000591859.1:c.283G>A
  hgvsp: ENSP00000465610.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000405969
  ensembl transcript: ENST00000431281
  gene symbol: ACBD4
  hgvsc: ENST00000431281.1:c.283G>A
  hgvsp: ENSP00000405969.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000366154
  ensembl transcript: ENST00000376955
  gene symbol: ACBD4
  hgvsc: ENST00000376955.4:c.283G>A
  hgvsp: ENSP00000366154.3:p.Val95Met
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000465484
  ensembl transcript: ENST00000586346
  gene symbol: ACBD4
  hgvsc: ENST00000586346.1:c.283G>A
  hgvsp: ENSP00000465484.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000591136
  gene symbol: ACBD4
  hgvsc: ENST00000591136.1:n.227G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000381367
  ensembl transcript: ENST00000398322
  gene symbol: ACBD4
  hgvsc: ENST00000398322.3:c.283G>A
  hgvsp: ENSP00000381367.2:p.Val95Met
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000314440
  ensembl transcript: ENST00000321854
  gene symbol: ACBD4
  hgvsc: ENST00000321854.8:c.283G>A
  hgvsp: ENSP00000314440.8:p.Val95Met
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181513
  ensembl protein: ENSP00000466305
  ensembl transcript: ENST00000592162
  gene symbol: ACBD4
  hgvsc: ENST00000592162.1:c.283G>A
  hgvsp: ENSP00000466305.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000590289
  gene symbol: ACBD4
  hgvsc: ENST00000590289.1:n.657G>A
  variant of: http://identifiers.org/hgnc/23337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181513
  ensembl transcript: ENST00000585553
  gene symbol: ACBD4
  hgvsc: ENST00000585553.1:n.963G>A
  variant of: http://identifiers.org/hgnc/23337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val95Met
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1617
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5926
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 9.75e1
variant carriers: 73

GenotypeQuality
all individuals: 15570
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3664
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4413
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 549
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15346
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.934846409704559e-4
allele num: 10222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.67319211591875e-5
allele num: 59766
num of homozygotes: 0

African
type: Population
allele count: 70
allele frequency: 8.012820512820512e-3
allele num: 8736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

DP
type: SiteQuality
SIO_000300: 1.216752e6

QD
type: SiteQuality
SIO_000300: 1.378e1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 1.183e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11158
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5869
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4257
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.67464916100077e-5
allele num: 59714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15308
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 5.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.76e-1

DP
type: SiteQuality
SIO_000300: 1.214581e6

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

GenotypeQuality
all individuals: 966
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 322
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11253
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4473
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.672296732332185e-5
allele num: 59798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.172e0

MQ
type: SiteQuality
SIO_000300: 5.177e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.209264e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.719e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.473e0

QD
type: SiteQuality
SIO_000300: 5.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16123
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6044
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4500
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 664
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.674424835069154e-5
allele num: 59722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

BaseQRankSum
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QD
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DP
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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allele num: 58850
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Non-Finnish)
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allele num: 58930
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Latino
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African
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European (Finnish)
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East Asian
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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African
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East Asian
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Other
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Latino
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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MQ
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DP
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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ClippingRankSum
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FS
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DP
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Latino
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Other
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Latino
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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DP
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QD
type: SiteQuality
SIO_000300: 1.196e1

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2988
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31609
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 894
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.069461923324841e-5
allele num: 65158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
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

DP
type: SiteQuality
SIO_000300: 1.688096e6

QD
type: SiteQuality
SIO_000300: 1.167e1

FS
type: SiteQuality
SIO_000300: 4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2932
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.067014261616316e-5
allele num: 65210
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13650
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: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.825e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.044e1

MQ
type: SiteQuality
SIO_000300: 5.91e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 2.564e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 1.689694e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2930
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31767
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534118802160039e-5
allele num: 65184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
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: 9658
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

FS
type: SiteQuality
SIO_000300: 1.764e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.115e1

DP
type: SiteQuality
SIO_000300: 1.690069e6

GenotypeDepth
all individuals: 86
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2110
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3522
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530409231428484e-5
allele num: 65342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13952
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.093e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 2.712e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.411e1

DP
type: SiteQuality
SIO_000300: 1.699499e6

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.151029748283753e-5
allele num: 13984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65354
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: 1.700366e6

QD
type: SiteQuality
SIO_000300: 1.106e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 6.134e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

FS
type: SiteQuality
SIO_000300: 3.274e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2931
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.043245527539091e-5
allele num: 14198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.807e0

MQRankSum
type: SiteQuality
SIO_000300: -1.669e0

QD
type: SiteQuality
SIO_000300: 6.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

FS
type: SiteQuality
SIO_000300: 4.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.669e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 1.704999e6

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523879186858066e-5
allele num: 65622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14624
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 1.71679e6

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.646e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

GenotypeDepth
all individuals: 66
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 4155
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65718
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 4.644681839294008e-4
allele num: 8612
num of homozygotes: 0

African
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

QD
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VQSLOD
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BaseQRankSum
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MQ
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DP
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SIO_000300: 1.722184e6

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
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SIO_000300: -6.900000000000001e-2

InbreedingCoeff
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SIO_000300: 5.1e-3

ReadPosRankSum
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SIO_000300: 3.66e-1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.16144018583043e-4
allele num: 8610
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MQ
type: SiteQuality
SIO_000300: 6.003e1

DP
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SIO_000300: 1.734911e6

ClippingRankSum
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SIO_000300: -1.87e-1

VQSLOD
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QD
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MQRankSum
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FS
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ReadPosRankSum
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SIO_000300: -4.68e-1

InbreedingCoeff
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SIO_000300: 7.2e-3

BaseQRankSum
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SIO_000300: 4.54e0

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.028009084027252e-5
allele num: 66050
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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VQSLOD
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SIO_000300: 1.3e0

ClippingRankSum
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SIO_000300: -1.124e0

FS
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SIO_000300: 5.35e-1

ReadPosRankSum
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SIO_000300: 1.16e0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15712
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514004542013626e-5
allele num: 66050
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
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BaseQRankSum
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SIO_000300: 2.01e0

InbreedingCoeff
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DP
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FS
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VQSLOD
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MQ
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SIO_000300: 5.97e1

ReadPosRankSum
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SIO_000300: 1.16e0

ClippingRankSum
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SIO_000300: -1.124e0

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

Latino
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allele frequency: 2.592464569650881e-4
allele num: 11572
num of homozygotes: 0

South Asian
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allele frequency: 6.329915179136599e-5
allele num: 15798
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66112
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 8

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

European (Finnish)
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num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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allele num: 8612
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African
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allele frequency: 0.0e0
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DP
type: SiteQuality
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VQSLOD
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

Other
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East Asian
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allele frequency: 4.642525533890436e-4
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

MQRankSum
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SIO_000300: 8.19e-1

BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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QD
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ClippingRankSum
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MQ
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ReadPosRankSum
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SIO_000300: 5.03e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66342
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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DP
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

East Asian
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allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

FS
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VQSLOD
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MQRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
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SIO_000300: 6.01e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.014408874419726e-5
allele num: 66348
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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QD
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SIO_000300: 1.309e1

DP
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 3.4e-3

MQ
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GenotypeDepth
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variant carriers: 0

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

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

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

European (Finnish)
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South Asian
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European (Non-Finnish)
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allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

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

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

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

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

South Asian
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East Asian
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66378
num of homozygotes: 0

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

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

Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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DP
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MQRankSum
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MQ
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QD
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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African
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Other
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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FS
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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VQSLOD
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FS
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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Other
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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East Asian
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African
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Latino
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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DP
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: -1.761e0

GenotypeDepth
all individuals: 135
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 839
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3663
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
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: 9758
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.823264859608606e-4
allele num: 16454
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.742154e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

GenotypeDepth
all individuals: 1840
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9660
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35307
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3664
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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: 11568
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.048760499897562e-4
allele num: 9762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.087e1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.74228e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 5.667e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.87e0

GenotypeDepth
all individuals: 11226
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3200
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 916
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2185
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3663
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9692
bin: 6.75e1
variant carriers: 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: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.185825410544512e-4
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

FS
type: SiteQuality
SIO_000300: 1.867e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 1.741947e6

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4114
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34969
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3658
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.120852109791069e-4
allele num: 9764
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: 66330
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.741641e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.998e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3133
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 8.25e1
variant carriers: 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: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 2.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 1.736272e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.128e0

QD
type: SiteQuality
SIO_000300: 1.119e1

GenotypeDepth
all individuals: 26393
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
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: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508978421608571e-5
allele num: 66270
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.736272e6

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.128e0

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 2.111e0

GenotypeDepth
all individuals: 24
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2838
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 435
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.114e0

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

FS
type: SiteQuality
SIO_000300: 9.07e-1

DP
type: SiteQuality
SIO_000300: 1.735261e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.507113576079093e-5
allele num: 66352
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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ReadPosRankSum
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SIO_000300: -4.5e-1

InbreedingCoeff
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FS
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MQRankSum
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DP
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -3.7e-2

MQ
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SIO_000300: 5.969e1

BaseQRankSum
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SIO_000300: -2.203e0

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

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

South Asian
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African
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allele frequency: 0.0e0
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Latino
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allele num: 11558
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European (Non-Finnish)
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allele frequency: 9.038594799795125e-5
allele num: 66382
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Other
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East Asian
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ReadPosRankSum
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SIO_000300: 2.91e-1

ClippingRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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South Asian
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Latino
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Other
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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SIO_000300: 1.2e-3

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

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

East Asian
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allele frequency: 1.160362032954282e-4
allele num: 8618
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 66426
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Latino
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African
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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DP
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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ClippingRankSum
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VQSLOD
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FS
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QD
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 4.242424242424243e-4
allele num: 16500
num of homozygotes: 0

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

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

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

ClippingRankSum
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SIO_000300: -8.46e-1

FS
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SIO_000300: 5.22e-1

ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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QD
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GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.027986758952753e-5
allele num: 66460
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

MQ
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SIO_000300: 5.972e1

FS
type: SiteQuality
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -6.07e-1

MQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.007609251406057e-5
allele num: 66498
num of homozygotes: 0

South Asian
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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SIO_000300: 1.58e0

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.007790176557283e-5
allele num: 66494
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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FS
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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SIO_000300: 4.2e-3

VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
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allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 5.1e-3

FS
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SIO_000300: 0.0e0

QD
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MQ
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SIO_000300: 5.937e1

DP
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SIO_000300: 1.743857e6

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -1.085e0

FS
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SIO_000300: 4.171e1

MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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SIO_000300: -8.76e-1

ClippingRankSum
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SIO_000300: 1.55e0

DP
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SIO_000300: 1.744355e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -2.9e-1

DP
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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SIO_000300: 6.47e-1

ReadPosRankSum
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SIO_000300: 2.07e-1

MQRankSum
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SIO_000300: 2.02e-1

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.023007890140336e-5
allele num: 66412
num of homozygotes: 0

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

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