14-74754488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754488
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754488
    reference: chr 14
allele count: 8
allele frequency: 1.155601779626741e-4
allele num: 69228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.183+25C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.527+25C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1346+25C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.832+25C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1337+25C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1337+25C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1636+25C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*167+25C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1324+25C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.527+25C>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14001
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

14-74754493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754493
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754493
    reference: chr 14
allele count: 1
allele frequency: 1.394388978749512e-5
allele num: 71716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1324+20C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.527+20C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1337+20C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*167+20C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1636+20C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1337+20C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.183+20C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.832+20C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.527+20C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1346+20C>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12473
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

14-74754494-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754494
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754494
    reference: chr 14
allele count: 1
allele frequency: 1.384466288245881e-5
allele num: 72230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.183+19G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1324+19G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.832+19G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*167+19G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1337+19G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1636+19G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.527+19G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.527+19G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1346+19G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1337+19G>C
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5165
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

14-74754502-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754502
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754502
    reference: chr 14
allele count: 1
allele frequency: 1.303611002476861e-5
allele num: 76710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.527+11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*167+11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1337+11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.832+11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1636+11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.527+11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1324+11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1337+11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.183+11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1346+11G>C
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-74754503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754503
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754503
    reference: chr 14
allele count: 2141
allele frequency: 2.693759436336185e-2
allele num: 79480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1324+10C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.527+10C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*167+10C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.183+10C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1337+10C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1636+10C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.527+10C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.832+10C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1337+10C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1346+10C>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9966
  bin: 1.25e1
  variant carriers: 497
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 3.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 17743
  bin: 2.25e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 1.75e1
  variant carriers: 437
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 19622
  bin: 7.5e0
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.5e0
  variant carriers: 7
num of homozygotes: 205
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-74754516-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754516
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754516
    reference: chr 14
allele count: 2
allele frequency: 2.293314986813439e-5
allele num: 87210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.524G>T
  hgvsp: ENST00000556517.1:c.524G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.524G>T
  hgvsp: ENST00000481348.1:c.524G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1821G>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1334G>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1343G>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1321G>T
  hgvsp: ENSP00000298816.7:p.Ala441Ser
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1334G>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.180G>T
  hgvsp: ENSP00000450982.1:p.Ala61Ser
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1633G>T
  hgvsp: ENSP00000349396.4:p.Ala545Ser
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*164G>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.829G>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23204
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala545Ser
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: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-74754516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754516
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754516
    reference: chr 14
allele count: 2
allele frequency: 2.293314986813439e-5
allele num: 87210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1321G>A
  hgvsp: ENSP00000298816.7:p.Ala441Thr
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*164G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.524G>A
  hgvsp: ENST00000481348.1:c.524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1334G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1821G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1343G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.829G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1633G>A
  hgvsp: ENSP00000349396.4:p.Ala545Thr
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.180G>A
  hgvsp: ENSP00000450982.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1334G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.524G>A
  hgvsp: ENST00000556517.1:c.524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23204
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala545Thr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

14-74754517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754517
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754517
    reference: chr 14
allele count: 1
allele frequency: 1.133349955799352e-5
allele num: 88234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.828C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.179C>T
  hgvsp: ENST00000555904.1:c.179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.523C>T
  hgvsp: ENSP00000434792.1:p.Thr175Met
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1333C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.523C>T
  hgvsp: ENSP00000450960.1:p.Thr175Met
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1333C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1320C>T
  hgvsp: ENST00000298816.7:c.1320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1820C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1632C>T
  hgvsp: ENST00000356924.4:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1342C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr175Met
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

14-74754521-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754521
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754521
    reference: chr 14
allele count: 1
allele frequency: 1.101491419381843e-5
allele num: 90786
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*159A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1329A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.519A>G
  hgvsp: ENSP00000450960.1:p.Ser174Gly
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.519A>G
  hgvsp: ENSP00000434792.1:p.Ser174Gly
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.175A>G
  hgvsp: ENSP00000450982.1:p.Lys59Arg
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1338A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1316A>G
  hgvsp: ENSP00000298816.7:p.Lys439Arg
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.824A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1816A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1628A>G
  hgvsp: ENSP00000349396.4:p.Lys543Arg
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1329A>G
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys543Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

14-74754523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754523
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754523
    reference: chr 14
allele count: 4
allele frequency: 4.367670502937258e-5
allele num: 91582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.517G>A
  hgvsp: ENSP00000450960.1:p.Arg173Gln
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1626G>A
  hgvsp: ENST00000356924.4:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1327G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1814G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*157G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.173G>A
  hgvsp: ENST00000555904.1:c.173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1314G>A
  hgvsp: ENST00000298816.7:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1336G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.517G>A
  hgvsp: ENSP00000434792.1:p.Arg173Gln
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.822G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1327G>A
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg173Gln
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-74754540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754540
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754540
    reference: chr 14
allele count: 1
allele frequency: 1.004379092844803e-5
allele num: 99564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.156C>T
  hgvsp: ENSP00000450982.1:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1797C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1609C>T
  hgvsp: ENSP00000349396.4:p.Leu537Phe
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.500C>T
  hgvsp: ENST00000481348.1:c.500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1310C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.500C>T
  hgvsp: ENST00000556517.1:c.500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.805C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1297C>T
  hgvsp: ENSP00000298816.7:p.Leu433Phe
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*140C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1310C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1319C>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu537Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

14-74754542-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754542
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754542
    reference: chr 14
allele count: 1
allele frequency: 1.000300090027008e-5
allele num: 99970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.498G>C
  hgvsp: ENSP00000450960.1:p.Asp167His
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.803G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1295G>C
  hgvsp: ENSP00000298816.7:p.Arg432Pro
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1795G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*138G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.154G>C
  hgvsp: ENSP00000450982.1:p.Arg52Pro
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1308G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1317G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1607G>C
  hgvsp: ENSP00000349396.4:p.Arg536Pro
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.498G>C
  hgvsp: ENSP00000434792.1:p.Asp167His
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1308G>C
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30820
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg536Pro
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

14-74754543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754543
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754543
    reference: chr 14
allele count: 1
allele frequency: 9.966909859267233e-6
allele num: 100332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1794C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1316C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1606C>T
  hgvsp: ENSP00000349396.4:p.Arg536Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1294C>T
  hgvsp: ENSP00000298816.7:p.Arg432Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1307C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.802C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.497C>T
  hgvsp: ENST00000481348.1:c.497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1307C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.153C>T
  hgvsp: ENSP00000450982.1:p.Arg52Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.497C>T
  hgvsp: ENST00000556517.1:c.497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*137C>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10169
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg536Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

14-74754544-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754544
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754544
    reference: chr 14
allele count: 3
allele frequency: 2.977785718539694e-5
allele num: 100746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1306C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1293C>A
  hgvsp: ENST00000298816.7:c.1293C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1605C>A
  hgvsp: ENST00000356924.4:c.1605C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.496C>A
  hgvsp: ENSP00000434792.1:p.Pro166His
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1315C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.496C>A
  hgvsp: ENSP00000450960.1:p.Pro166His
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.152C>A
  hgvsp: ENST00000555904.1:c.152C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1306C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*136C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1793C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.801C>A
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro166His
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

14-74754553-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754553
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754553
    reference: chr 14
allele count: 1
allele frequency: 9.793360101850946e-6
allele num: 102110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.487C>G
  hgvsp: ENSP00000450960.1:p.Ser163Cys
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.792C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1596C>G
  hgvsp: ENST00000356924.4:c.1596C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1297C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.143C>G
  hgvsp: ENST00000555904.1:c.143C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1284C>G
  hgvsp: ENST00000298816.7:c.1284C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.487C>G
  hgvsp: ENSP00000434792.1:p.Ser163Cys
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1306C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*127C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1784C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1297C>G
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser163Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-74754557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754557
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754557
    reference: chr 14
allele count: 1
allele frequency: 9.777273705000098e-6
allele num: 102278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1592G>A
  hgvsp: ENSP00000349396.4:p.Arg531Gln
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.483G>A
  hgvsp: ENSP00000450960.1:p.Gly162Ser
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.483G>A
  hgvsp: ENSP00000434792.1:p.Gly162Ser
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*123G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.788G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1293G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1302G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1280G>A
  hgvsp: ENSP00000298816.7:p.Arg427Gln
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1293G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.139G>A
  hgvsp: ENSP00000450982.1:p.Arg47Gln
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1780G>A
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg531Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

14-74754559-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754559
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754559
    reference: chr 14
allele count: 2
allele frequency: 1.94984986156066e-5
allele num: 102572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1300A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1590A>G
  hgvsp: ENST00000356924.4:c.1590A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1291A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1778A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1278A>G
  hgvsp: ENST00000298816.7:c.1278A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.481A>G
  hgvsp: ENSP00000434792.1:p.Asn161Ser
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.786A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.137A>G
  hgvsp: ENST00000555904.1:c.137A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.481A>G
  hgvsp: ENSP00000450960.1:p.Asn161Ser
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*121A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1291A>G
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31656
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn161Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

14-74754560-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754560
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754560
    reference: chr 14
allele count: 8
allele frequency: 7.796511061300068e-5
allele num: 102610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*120A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.785A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.480A>T
  hgvsp: ENSP00000450960.1:p.Asn161Tyr
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1589A>T
  hgvsp: ENSP00000349396.4:p.Gln530Leu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.136A>T
  hgvsp: ENSP00000450982.1:p.Gln46Leu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1277A>T
  hgvsp: ENSP00000298816.7:p.Gln426Leu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1299A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.480A>T
  hgvsp: ENSP00000434792.1:p.Asn161Tyr
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1777A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1290A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1290A>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31688
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln530Leu
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

14-74754561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754561
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754561
    reference: chr 14
allele count: 1
allele frequency: 9.7551458394303e-6
allele num: 102510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.784C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1776C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1276C>T
  hgvsp: ENSP00000298816.7:p.Gln426Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1298C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1588C>T
  hgvsp: ENSP00000349396.4:p.Gln530Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.479C>T
  hgvsp: ENST00000556517.1:c.479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.479C>T
  hgvsp: ENST00000481348.1:c.479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.135C>T
  hgvsp: ENSP00000450982.1:p.Gln46Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*119C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1289C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1289C>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln530Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-74754566-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754566
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754565
    reference: chr 14
allele count: 4
allele frequency: 3.920646122480985e-5
allele num: 102024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1283delG
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.473delG
  hgvsp: ENSP00000450960.1:p.Arg159AspfsTer20
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1283delG
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1292delG
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1270delG
  hgvsp: ENSP00000298816.7:p.Glu424ArgfsTer27
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.473delG
  hgvsp: ENSP00000434792.1:p.Arg159AspfsTer20
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.129delG
  hgvsp: ENSP00000450982.1:p.Glu44ArgfsTer27
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1582delG
  hgvsp: ENSP00000349396.4:p.Glu528ArgfsTer27
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*113delG
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.778delG
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1770delG
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu528ArgfsTer27
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

14-74754571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754571
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754571
    reference: chr 14
allele count: 3
allele frequency: 2.94811320754717e-5
allele num: 101760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1288G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1279G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.774G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1279G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.125G>A
  hgvsp: ENST00000555904.1:c.125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1266G>A
  hgvsp: ENST00000298816.7:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.469G>A
  hgvsp: ENSP00000450960.1:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.469G>A
  hgvsp: ENSP00000434792.1:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1578G>A
  hgvsp: ENST00000356924.4:c.1578G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1766G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29429
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg157Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

14-74754572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754572
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754572
    reference: chr 14
allele count: 5
allele frequency: 4.915550836626752e-5
allele num: 101718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1287C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1265C>T
  hgvsp: ENSP00000298816.7:p.Pro422Leu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.468C>T
  hgvsp: ENSP00000450960.1:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1278C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1577C>T
  hgvsp: ENSP00000349396.4:p.Pro526Leu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.773C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.124C>T
  hgvsp: ENSP00000450982.1:p.Pro42Leu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.468C>T
  hgvsp: ENSP00000434792.1:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*108C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1278C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1765C>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro526Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/14-74754578-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754578
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754578
    reference: chr 14
allele count: 1
allele frequency: 9.943718552990076e-6
allele num: 100566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.462T>G
  hgvsp: ENSP00000434792.1:p.Cys155Gly
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.462T>G
  hgvsp: ENSP00000450960.1:p.Cys155Gly
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1571T>G
  hgvsp: ENSP00000349396.4:p.Leu524Arg
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.118T>G
  hgvsp: ENSP00000450982.1:p.Leu40Arg
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*102T>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1759T>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1259T>G
  hgvsp: ENSP00000298816.7:p.Leu420Arg
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1281T>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1272T>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1272T>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.767T>G
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu524Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

14-74754582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754582
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754582
    reference: chr 14
allele count: 1
allele frequency: 1.003472013165553e-5
allele num: 99654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.458G>A
  hgvsp: ENSP00000434792.1:p.Met153Ile
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.114G>A
  hgvsp: ENSP00000450982.1:p.Val39Ile
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*98G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1755G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1268G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.763G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.458G>A
  hgvsp: ENSP00000450960.1:p.Met153Ile
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1255G>A
  hgvsp: ENSP00000298816.7:p.Val419Ile
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1277G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1567G>A
  hgvsp: ENSP00000349396.4:p.Val523Ile
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1268G>A
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26161
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val523Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

14-74754601-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754601
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754601
    reference: chr 14
allele count: 2295
allele frequency: 2.483551207687646e-2
allele num: 92408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.744A>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1748-12A>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1560-12A>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.451-12A>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1270-12A>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1248-12A>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*91-12A>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1261-12A>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.451-12A>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.107-12A>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1261-12A>C
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 13561
  bin: 7.5e0
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 15885
  bin: 1.25e1
  variant carriers: 374
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 1.75e1
  variant carriers: 465
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15231
  bin: 2.25e1
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.75e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
num of homozygotes: 222
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

14-74754604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754604
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754604
    reference: chr 14
allele count: 1
allele frequency: 1.104630611523507e-5
allele num: 90528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1270-15C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1560-15C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1248-15C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1748-15C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*91-15C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1261-15C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.741C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.451-15C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.107-15C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1261-15C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.451-15C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

14-74754607-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754607
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754607
    reference: chr 14
allele count: 1
allele frequency: 1.117967981397013e-5
allele num: 89448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*91-18T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1560-18T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.451-18T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1270-18T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1261-18T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1748-18T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1248-18T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.738T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.451-18T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.107-18T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1261-18T>C
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

14-74754615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754615
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754615
    reference: chr 14
allele count: 3
allele frequency: 3.53090720775858e-5
allele num: 84964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.451-26C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*91-26C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.107-26C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1748-26C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.451-26C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1560-26C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1261-26C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1248-26C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.730C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1270-26C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1261-26C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22897
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

14-74754618-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754618
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754618
    reference: chr 14
allele count: 1
allele frequency: 1.203775038520801e-5
allele num: 83072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.107-29T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*91-29T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1748-29T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1560-29T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.451-29T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.727T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1270-29T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1261-29T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1248-29T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.451-29T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1261-29T>C
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

14-74754621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754621
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754621
    reference: chr 14
allele count: 1
allele frequency: 1.214653580798756e-5
allele num: 82328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*91-32C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1270-32C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.724C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.451-32C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.451-32C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1248-32C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1560-32C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.107-32C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1261-32C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1748-32C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1261-32C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-74754622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754622
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754622
    reference: chr 14
allele count: 1
allele frequency: 1.223780502729031e-5
allele num: 81714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.451-33C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.723C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1261-33C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1261-33C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*91-33C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1748-33C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.451-33C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1248-33C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1270-33C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.107-33C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1560-33C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-74754624-GGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754624
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754621
    reference: chr 14
allele count: 1
allele frequency: 1.243100790612103e-5
allele num: 80444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.451-38_451-36delTTC
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.451-38_451-36delTTC
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1560-38_1560-36delTTC
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1248-38_1248-36delTTC
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*91-38_*91-36delTTC
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1261-38_*1261-36delTTC
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1270-38_*1270-36delTTC
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.107-38_107-36delTTC
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1748-38_1748-36delTTC
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.718_720delTTC
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1261-38_*1261-36delTTC
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 22523
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: GGAA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

14-74754632-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754632
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754632
    reference: chr 14
allele count: 1
allele frequency: 1.336969891438045e-5
allele num: 74796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.451-43T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1261-43T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1270-43T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.713T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.107-43T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1248-43T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1748-43T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*91-43T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1261-43T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.451-43T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1560-43T>C
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-74754633-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754633
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754633
    reference: chr 14
allele count: 1
allele frequency: 1.373701851750096e-5
allele num: 72796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.451-44A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.712A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.107-44A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.451-44A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1261-44A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1270-44A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*91-44A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1560-44A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1248-44A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1261-44A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1748-44A>G
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

14-74754859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754859
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754859
    reference: chr 14
allele count: 2
allele frequency: 1.943785717062551e-5
allele num: 102892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+51G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+51G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+51G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+51G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+51G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+51G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+51G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+51G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.486G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+51G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+51G>A
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13540
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14821
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ

14-74754870-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754870
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754870
    reference: chr 14
allele count: 3
allele frequency: 2.891956504974165e-5
allele num: 103736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+40A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.475A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+40A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+40A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+40A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+40A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+40A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+40A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+40A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+40A>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+40A>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12812
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18381
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

14-74754870-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754870
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754870
    reference: chr 14
allele count: 4
allele frequency: 3.85594200663222e-5
allele num: 103736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+40A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+40A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+40A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.475A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+40A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+40A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+40A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+40A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+40A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+40A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+40A>G
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

14-74754872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754872
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754872
    reference: chr 14
allele count: 2
allele frequency: 1.930278346137513e-5
allele num: 103612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+38C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.473C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+38C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+38C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+38C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+38C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+38C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+38C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+38C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+38C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+38C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19854
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-74754872-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754872
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754872
    reference: chr 14
allele count: 1
allele frequency: 9.651391730687565e-6
allele num: 103612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+38C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+38C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+38C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+38C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+38C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+38C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.473C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+38C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+38C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+38C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+38C>G
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19854
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

14-74754875-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754875
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754875
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 103760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+35C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+35C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+35C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+35C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.470C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+35C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+35C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+35C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+35C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+35C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+35C>G
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

14-74754876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754876
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754876
    reference: chr 14
allele count: 1
allele frequency: 9.623157165402826e-6
allele num: 103916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+34C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+34C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+34C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+34C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.469C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+34C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+34C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+34C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+34C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+34C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+34C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-74754877-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754877
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754877
    reference: chr 14
allele count: 22
allele frequency: 2.118684874516073e-4
allele num: 103838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+33C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+33C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+33C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+33C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+33C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+33C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+33C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+33C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+33C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.468C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+33C>A
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23233
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

14-74754879-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754879
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754879
    reference: chr 14
allele count: 40
allele frequency: 3.835017545205269e-4
allele num: 104302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+31A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.466A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+31A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+31A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+31A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+31A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+31A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+31A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+31A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+31A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+31A>G
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 24947
  bin: 2.25e1
  variant carriers: 8
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: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

14-74754886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754886
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754886
    reference: chr 14
allele count: 1
allele frequency: 9.531252978516555e-6
allele num: 104918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+24C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+24C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+24C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.459C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+24C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+24C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+24C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+24C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+24C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+24C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+24C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-74754887-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754887
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754887
    reference: chr 14
allele count: 1
allele frequency: 9.523446725839016e-6
allele num: 105004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+23C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+23C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+23C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+23C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+23C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+23C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+23C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.458C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+23C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+23C>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+23C>G
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-74754889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754889
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754889
    reference: chr 14
allele count: 4
allele frequency: 3.80191996958464e-5
allele num: 105210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+21C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+21C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+21C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+21C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+21C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+21C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+21C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+21C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.456C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+21C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+21C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-74754890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754890
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754890
    reference: chr 14
allele count: 1
allele frequency: 9.504619244953047e-6
allele num: 105212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+20G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+20G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+20G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+20G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+20G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.455G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+20G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+20G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+20G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+20G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+20G>A
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

14-74754894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754894
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754894
    reference: chr 14
allele count: 3
allele frequency: 2.842039447507531e-5
allele num: 105558
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1559+16G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1269+16G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.450+16G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1260+16G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1247+16G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.451G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.450+16G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*90+16G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.106+16G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1260+16G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1747+16G>A
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

14-74754923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754923
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754923
    reference: chr 14
allele count: 1
allele frequency: 9.543623904869157e-6
allele num: 104782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1256G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*77G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.437G>A
  hgvsp: ENST00000481348.1:c.437G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.93G>A
  hgvsp: ENSP00000450982.1:p.Val32Met
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1234G>A
  hgvsp: ENSP00000298816.7:p.Val412Met
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.422G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1247G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.437G>A
  hgvsp: ENST00000556517.1:c.437G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1546G>A
  hgvsp: ENSP00000349396.4:p.Val516Met
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1247G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1734G>A
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val516Met
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

14-74754924-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754924
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754924
    reference: chr 14
allele count: 1
allele frequency: 9.538162186909826e-6
allele num: 104842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.436G>C
  hgvsp: ENSP00000434792.1:p.Arg146Thr
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1246G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.421G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.436G>C
  hgvsp: ENSP00000450960.1:p.Arg146Thr
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1733G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*76G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1233G>C
  hgvsp: ENSP00000298816.7:p.Gln411His
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.92G>C
  hgvsp: ENSP00000450982.1:p.Gln31His
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1255G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1545G>C
  hgvsp: ENSP00000349396.4:p.Gln515His
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1246G>C
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28723
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln515His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

14-74754924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754924
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754924
    reference: chr 14
allele count: 2
allele frequency: 1.907632437381965e-5
allele num: 104842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1246G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1255G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*76G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.421G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1733G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1545G>A
  hgvsp: ENST00000356924.4:c.1545G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.92G>A
  hgvsp: ENST00000555904.1:c.92G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.436G>A
  hgvsp: ENSP00000450960.1:p.Arg146Lys
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1233G>A
  hgvsp: ENST00000298816.7:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.436G>A
  hgvsp: ENSP00000434792.1:p.Arg146Lys
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1246G>A
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg146Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

14-74754926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754926
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754926
    reference: chr 14
allele count: 1
allele frequency: 9.591774094536525e-6
allele num: 104256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1731C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.90C>T
  hgvsp: ENSP00000450982.1:p.Gln31Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1231C>T
  hgvsp: ENSP00000298816.7:p.Gln411Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1253C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.419C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.434C>T
  hgvsp: ENST00000556517.1:c.434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1543C>T
  hgvsp: ENSP00000349396.4:p.Gln515Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1244C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1244C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*74C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.434C>T
  hgvsp: ENST00000481348.1:c.434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln515Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-74754927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754927
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754927
    reference: chr 14
allele count: 1
allele frequency: 9.590486237652248e-6
allele num: 104270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1243G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1243G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.89G>A
  hgvsp: ENST00000555904.1:c.89G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*73G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1730G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1542G>A
  hgvsp: ENST00000356924.4:c.1542G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.433G>A
  hgvsp: ENSP00000434792.1:p.Ser145Asn
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1230G>A
  hgvsp: ENST00000298816.7:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1252G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.418G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.433G>A
  hgvsp: ENSP00000450960.1:p.Ser145Asn
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser145Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

14-74754929-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754929
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754929
    reference: chr 14
allele count: 2
allele frequency: 1.921340327012124e-5
allele num: 104094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.431C>A
  hgvsp: ENST00000481348.1:c.431C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*71C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.431C>A
  hgvsp: ENST00000556517.1:c.431C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1241C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.87C>A
  hgvsp: ENSP00000450982.1:p.Gln30Lys
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1228C>A
  hgvsp: ENSP00000298816.7:p.Gln410Lys
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1540C>A
  hgvsp: ENSP00000349396.4:p.Gln514Lys
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1250C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1241C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.416C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1728C>A
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln514Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

14-74754930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754930
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754930
    reference: chr 14
allele count: 6
allele frequency: 5.774672287347693e-5
allele num: 103902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1727C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*70C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.430C>T
  hgvsp: ENSP00000450960.1:p.Thr144Ile
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.430C>T
  hgvsp: ENSP00000434792.1:p.Thr144Ile
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1539C>T
  hgvsp: ENST00000356924.4:c.1539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.415C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1240C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1249C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1227C>T
  hgvsp: ENST00000298816.7:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.86C>T
  hgvsp: ENST00000555904.1:c.86C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1240C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr144Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

14-74754933-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754933
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754933
    reference: chr 14
allele count: 2
allele frequency: 1.944390433599067e-5
allele num: 102860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1224G>A
  hgvsp: ENST00000298816.7:c.1224G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*67G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1237G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1724G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.427G>A
  hgvsp: ENSP00000434792.1:p.Trp143Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.427G>A
  hgvsp: ENSP00000450960.1:p.Trp143Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.83G>A
  hgvsp: ENST00000555904.1:c.83G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1246G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.412G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1237G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1536G>A
  hgvsp: ENST00000356924.4:c.1536G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp143Ter
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: FS

14-74754936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754936
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754936
    reference: chr 14
allele count: 2403
allele frequency: 2.353621030774354e-2
allele num: 102098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1234C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1221C>T
  hgvsp: ENST00000298816.7:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.80C>T
  hgvsp: ENST00000555904.1:c.80C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.409C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*64C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.424C>T
  hgvsp: ENSP00000434792.1:p.Ala142Val
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.424C>T
  hgvsp: ENSP00000450960.1:p.Ala142Val
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1533C>T
  hgvsp: ENST00000356924.4:c.1533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1243C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1721C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1234C>T
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.25e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 11189
  bin: 2.75e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 7.5e0
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 24965
  bin: 2.25e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 1.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.75e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
hgvs: p.Ala142Val
num of homozygotes: 245
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-74754940-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754940
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754940
    reference: chr 14
allele count: 2
allele frequency: 1.998321410015587e-5
allele num: 100084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.405A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.420A>G
  hgvsp: ENSP00000434792.1:p.Arg141Gly
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1529A>G
  hgvsp: ENSP00000349396.4:p.Glu510Gly
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1217A>G
  hgvsp: ENSP00000298816.7:p.Glu406Gly
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1717A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.76A>G
  hgvsp: ENSP00000450982.1:p.Glu26Gly
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.420A>G
  hgvsp: ENSP00000450960.1:p.Arg141Gly
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1239A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*60A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1230A>G
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1230A>G
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu510Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-74754945-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754945
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754945
    reference: chr 14
allele count: 1
allele frequency: 1.01995022642895e-5
allele num: 98044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.415G>T
  hgvsp: ENSP00000434792.1:p.Gly139Val
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.415G>T
  hgvsp: ENSP00000450960.1:p.Gly139Val
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1212G>T
  hgvsp: ENSP00000298816.7:p.Arg404Ser
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1225G>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*55G>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.71G>T
  hgvsp: ENSP00000450982.1:p.Arg24Ser
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1712G>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.400G>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1225G>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1524G>T
  hgvsp: ENSP00000349396.4:p.Arg508Ser
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1234G>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21049
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg508Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

14-74754949-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754949
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754949
    reference: chr 14
allele count: 3
allele frequency: 3.130870381966187e-5
allele num: 95820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1520C>A
  hgvsp: ENSP00000349396.4:p.Ala507Glu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.67C>A
  hgvsp: ENSP00000450982.1:p.Ala23Glu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1708C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1221C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*51C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1208C>A
  hgvsp: ENSP00000298816.7:p.Ala403Glu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.411C>A
  hgvsp: ENSP00000450960.1:p.Gln138Lys
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1230C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1221C>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.411C>A
  hgvsp: ENSP00000434792.1:p.Gln138Lys
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.396C>A
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala507Glu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-74754950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754950
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754950
    reference: chr 14
allele count: 12
allele frequency: 1.262759128696201e-4
allele num: 95030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1229G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1707G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.410G>A
  hgvsp: ENSP00000450960.1:p.Trp137Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*50G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.410G>A
  hgvsp: ENSP00000434792.1:p.Trp137Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.66G>A
  hgvsp: ENSP00000450982.1:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1220G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.395G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1519G>A
  hgvsp: ENSP00000349396.4:p.Ala507Thr
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1220G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1207G>A
  hgvsp: ENSP00000298816.7:p.Ala403Thr
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17878
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9696
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Trp137Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-74754951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754951
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754951
    reference: chr 14
allele count: 7
allele frequency: 7.420284938941655e-5
allele num: 94336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1219G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.409G>A
  hgvsp: ENSP00000450960.1:p.Trp137Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1706G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.409G>A
  hgvsp: ENSP00000434792.1:p.Trp137Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1219G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1518G>A
  hgvsp: ENST00000356924.4:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1206G>A
  hgvsp: ENST00000298816.7:c.1206G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.65G>A
  hgvsp: ENST00000555904.1:c.65G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.394G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1228G>A
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17239
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp137Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

14-74754954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754954
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754954
    reference: chr 14
allele count: 1
allele frequency: 1.075060740931863e-5
allele num: 93018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.406G>A
  hgvsp: ENSP00000434792.1:p.Trp136Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1225G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1515G>A
  hgvsp: ENST00000356924.4:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1216G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1203G>A
  hgvsp: ENST00000298816.7:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1216G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.406G>A
  hgvsp: ENSP00000450960.1:p.Trp136Ter
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.62G>A
  hgvsp: ENST00000555904.1:c.62G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.391G>A
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1703G>A
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp136Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

14-74754960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754960
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754960
    reference: chr 14
allele count: 1
allele frequency: 1.101273071670851e-5
allele num: 90804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1697C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1219C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.385C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.400C>T
  hgvsp: ENSP00000450960.1:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1197C>T
  hgvsp: ENST00000298816.7:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1210C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.400C>T
  hgvsp: ENSP00000434792.1:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.56C>T
  hgvsp: ENST00000555904.1:c.56C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1210C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1509C>T
  hgvsp: ENST00000356924.4:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro134Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-74754963-C-CTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754963
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754965
    reference: chr 14
allele count: 1
allele frequency: 1.114429634912852e-5
allele num: 89732
alternate allele: CTG
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1217-3_*1217-2dupCA
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1195-3_1195-2dupCA
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.398-3_398-2dupCA
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.380_381dupCA
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1208-3_*1208-2dupCA
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.54-3_54-2dupCA
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1692_1693dupCA
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1507-3_1507-2dupCA
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*38-3_*38-2dupCA
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.398-3_398-2dupCA
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1208-3_*1208-2dupCA
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1507-3_1507-2dupCA
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

14-74754965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754965
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754965
    reference: chr 14
allele count: 1
allele frequency: 1.119720517758767e-5
allele num: 89308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.398-3C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1217-3C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1692C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1208-3C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*38-3C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1507-3C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1208-3C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.380C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1195-3C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.54-3C>T
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.398-3C>T
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15000
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1507-3C>T
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

14-74754970-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754970
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754970
    reference: chr 14
allele count: 2
allele frequency: 2.260857769437725e-5
allele num: 88462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.375T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1217-8T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1208-8T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.54-8T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.398-8T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1507-8T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1687T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1195-8T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.398-8T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*38-8T>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1208-8T>C
  variant of: http://identifiers.org/hgnc/68
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1507-8T>C
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

14-74754973-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74754973
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74754973
    reference: chr 14
allele count: 100
allele frequency: 1.138614988727712e-3
allele num: 87826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000298816
  ensembl transcript: ENST00000298816
  gene symbol: ABCD4
  hgvsc: ENST00000298816.7:c.1195-11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450960
  ensembl transcript: ENST00000556517
  gene symbol: ABCD4
  hgvsc: ENST00000556517.1:c.398-11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000451778
  ensembl transcript: ENST00000553745
  gene symbol: ABCD4
  hgvsc: ENST00000553745.1:c.*1217-11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000432557
  ensembl transcript: ENST00000474270
  gene symbol: ABCD4
  hgvsc: ENST00000474270.1:c.*38-11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450611
  ensembl transcript: ENST00000553486
  gene symbol: ABCD4
  hgvsc: ENST00000553486.1:c.*1208-11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000349396
  ensembl transcript: ENST00000356924
  gene symbol: ABCD4
  hgvsc: ENST00000356924.4:c.1507-11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000465085
  gene symbol: ABCD4
  hgvsc: ENST00000465085.2:n.372G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000450982
  ensembl transcript: ENST00000555904
  gene symbol: ABCD4
  hgvsc: ENST00000555904.1:c.54-11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000436782
  ensembl transcript: ENST00000481935
  gene symbol: ABCD4
  hgvsc: ENST00000481935.1:c.*1208-11G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119688
  ensembl transcript: ENST00000484380
  gene symbol: ABCD4
  hgvsc: ENST00000484380.2:n.1684G>C
  variant of: http://identifiers.org/hgnc/68
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119688
  ensembl protein: ENSP00000434792
  ensembl transcript: ENST00000481348
  gene symbol: ABCD4
  hgvsc: ENST00000481348.1:c.398-11G>C
  variant of: http://identifiers.org/hgnc/68
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16560
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 13330
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14717
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
reference allele: C

GenotypeQuality
all individuals: 10556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4828
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3058
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5842
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 258
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 472
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22899
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.032417051979066e-4
allele num: 39362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 9.03034e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

FS
type: SiteQuality
SIO_000300: 3.591e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.879e0

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
all individuals: 892
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4567
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4464
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.456278247199843e-5
allele num: 40712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.36597e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.501e0

FS
type: SiteQuality
SIO_000300: 2.336e0

MQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

QD
type: SiteQuality
SIO_000300: 2.365e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

GenotypeQuality
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22541
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13178
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2637
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 754
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.44081034903588e-5
allele num: 40970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.945e1

FS
type: SiteQuality
SIO_000300: 2.622e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 9.43355e5

GenotypeQuality
all individuals: 950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4077
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17189
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 701
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43452
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.994415636218588e-4
allele num: 5014
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 5.684e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.447e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 1.004987e6

GenotypeQuality
all individuals: 20048
bin: 2.25e1
variant carriers: 20

GenotypeQuality
all individuals: 3691
bin: 3.25e1
variant carriers: 21

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 291
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 370
bin: 1.25e1
variant carriers: 12

GenotypeQuality
all individuals: 1748
bin: 6.75e1
variant carriers: 26

GenotypeQuality
all individuals: 459
bin: 8.75e1
variant carriers: 37

GenotypeQuality
all individuals: 603
bin: 4.25e1
variant carriers: 19

GenotypeQuality
all individuals: 18737
bin: 6.25e1
variant carriers: 21

GenotypeQuality
all individuals: 770
bin: 8.25e1
variant carriers: 48

GenotypeQuality
all individuals: 957
bin: 7.75e1
variant carriers: 38

GenotypeQuality
all individuals: 3391
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 561
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 433
bin: 1.75e1
variant carriers: 17

GenotypeQuality
all individuals: 714
bin: 7.25e1
variant carriers: 20

GenotypeQuality
all individuals: 1901
bin: 3.75e1
variant carriers: 29

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 29

GenotypeQuality
all individuals: 3662
bin: 9.75e1
variant carriers: 1715

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3516
num of homozygotes: 0

Latino
type: Population
allele count: 97
allele frequency: 1.444312090530077e-2
allele num: 6716
num of homozygotes: 2

South Asian
type: Population
allele count: 2
allele frequency: 1.740341106856944e-4
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 2010
allele frequency: 2.646826441927838e-1
allele num: 7594
num of homozygotes: 203

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 6.075881002745398e-4
allele num: 44438
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.945525291828794e-4
allele num: 5140
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 6.84931506849315e-3
allele num: 584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.464e-1

FS
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.563e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

DP
type: SiteQuality
SIO_000300: 1.043686e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2668
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 5.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2063
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
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variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.351206434316354e-4
allele num: 5968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.032e0

QD
type: SiteQuality
SIO_000300: 7.69e0

DP
type: SiteQuality
SIO_000300: 1.12334e6

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

FS
type: SiteQuality
SIO_000300: 1.6235e1

VQSLOD
type: SiteQuality
SIO_000300: -2.323e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 600
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variant carriers: 0

GenotypeQuality
all individuals: 1000
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 364
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variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.104921801239687e-5
allele num: 48722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3956
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.032e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

FS
type: SiteQuality
SIO_000300: 1.6235e1

QD
type: SiteQuality
SIO_000300: 7.69e0

DP
type: SiteQuality
SIO_000300: 1.12334e6

VQSLOD
type: SiteQuality
SIO_000300: -2.323e0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 309
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 567
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variant carriers: 0

GenotypeQuality
all individuals: 1009
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variant carriers: 0

GenotypeQuality
all individuals: 749
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variant carriers: 0

GenotypeQuality
all individuals: 486
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25576
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GenotypeQuality
all individuals: 813
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16883
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.647446457990115e-4
allele num: 6070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 1.135275e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.304e0

QD
type: SiteQuality
SIO_000300: 4.32e0

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
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variant carriers: 0

GenotypeQuality
all individuals: 1328
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 853
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 407
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GenotypeQuality
all individuals: 2313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 830
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.974255705598989e-5
allele num: 50652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 1.721e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.238e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.16111e6

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
all individuals: 27532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15331
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.957406827435014e-5
allele num: 51088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.992327365728901e-5
allele num: 12512
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.112356053532524e-4
allele num: 6426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.561e0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

DP
type: SiteQuality
SIO_000300: 1.173887e6

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.808383666678723e-5
allele num: 55298
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.82e1

GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.052853232259423e-4
allele num: 9498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4846
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55482
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
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

VQSLOD
type: SiteQuality
SIO_000300: -1.887e0

BaseQRankSum
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SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 4.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.297e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.264572e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeDepth
all individuals: 1785
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 753
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 1072
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variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.404116688879017e-5
allele num: 13506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55644
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.69e0

FS
type: SiteQuality
SIO_000300: 3.896e0

DP
type: SiteQuality
SIO_000300: 1.26851e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

GenotypeDepth
all individuals: 4132
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 553
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variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4902
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.215984635839858e-4
allele num: 13538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55868
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 3.869e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.474e0

DP
type: SiteQuality
SIO_000300: 1.271773e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
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variant carriers: 0

GenotypeQuality
all individuals: 555
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 2649
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variant carriers: 0

GenotypeQuality
all individuals: 957
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 460
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variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 279
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variant carriers: 0

GenotypeQuality
all individuals: 11239
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.766909322213584e-5
allele num: 56596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.889e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

DP
type: SiteQuality
SIO_000300: 1.28472e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.25e0

GenotypeDepth
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11293
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variant carriers: 0

GenotypeQuality
all individuals: 2625
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variant carriers: 0

GenotypeQuality
all individuals: 157
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variant carriers: 0

GenotypeQuality
all individuals: 926
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 1252
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variant carriers: 0

GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 810
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 453
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variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.765536723163842e-5
allele num: 56640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

FS
type: SiteQuality
SIO_000300: 6.446e0

DP
type: SiteQuality
SIO_000300: 1.285538e6

QD
type: SiteQuality
SIO_000300: 1.253e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 2647
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 557
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variant carriers: 0

GenotypeQuality
all individuals: 11241
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1042
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 22
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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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.668801708033093e-4
allele num: 7494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

FS
type: SiteQuality
SIO_000300: 1.289e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 2319
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5074
num of homozygotes: 0

African
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allele count: 8
allele frequency: 9.035464196973119e-4
allele num: 8854
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

QD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

DP
type: SiteQuality
SIO_000300: 1.288545e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 480
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GenotypeQuality
all individuals: 788
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2315
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.762052438680575e-5
allele num: 56752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

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

Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 1.288297e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 108
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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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bin: 2.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.083908900931534e-5
allele num: 56466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 1.042e1

BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 3.06e-1

MQRankSum
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SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 3.812e0

DP
type: SiteQuality
SIO_000300: 1.284725e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.325569835972449e-5
allele num: 56332
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7416
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13702
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

FS
type: SiteQuality
SIO_000300: 5.069e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 8.78e-1

VQSLOD
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ClippingRankSum
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SIO_000300: -7.91e-1

MQRankSum
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DP
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SIO_000300: 1.277989e6

QD
type: SiteQuality
SIO_000300: 7.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 857
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.87941751021133e-5
allele num: 56310
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7408
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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 9.93e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
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SIO_000300: -5.2e-1

InbreedingCoeff
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SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 1.276116e6

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1027
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GenotypeQuality
all individuals: 2522
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.795461074403907e-5
allele num: 55696
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.251577e6

FS
type: SiteQuality
SIO_000300: 3.896e0

InbreedingCoeff
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SIO_000300: 1.5e-3

VQSLOD
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BaseQRankSum
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SIO_000300: -9.45e-1

QD
type: SiteQuality
SIO_000300: 6.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 612
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55166
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.143379830779785e-4
allele num: 8746
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

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

DP
type: SiteQuality
SIO_000300: 1.23718e6

QD
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SIO_000300: 1.638e1

FS
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SIO_000300: 1.83e0

BaseQRankSum
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SIO_000300: -1.525e0

MQRankSum
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.45e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
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variant carriers: 24

GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 20

GenotypeQuality
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variant carriers: 1868

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8

GenotypeQuality
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variant carriers: 23

GenotypeQuality
all individuals: 560
bin: 9.25e1
variant carriers: 36

Latino
type: Population
allele count: 103
allele frequency: 1.24546553808948e-2
allele num: 8270
num of homozygotes: 3

African
type: Population
allele count: 2156
allele frequency: 2.539458186101295e-1
allele num: 8490
num of homozygotes: 219

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 5.687389684251814e-4
allele num: 50990
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 7.082152974504249e-3
allele num: 706
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.550387596899225e-4
allele num: 12900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

DP
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.77e-1

MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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SIO_000300: 5.5e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 17237
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.293995859213251e-4
allele num: 7728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12838
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4532
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.146e0

ReadPosRankSum
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QD
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MQRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

Latino
type: Population
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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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.008274089247701e-5
allele num: 49794
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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SIO_000300: -9.61e-1

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

DP
type: SiteQuality
SIO_000300: 1.006898e6

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7272
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 6.326444538169548e-5
allele num: 47420
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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MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
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SIO_000300: -7.17e-1

FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -1.749e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
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QD
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DP
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SIO_000300: 9.23332e5

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4174
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.155451135922749e-5
allele num: 46394
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

DP
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SIO_000300: 8.97735e5

InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: -4.05e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 5.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45974
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.419244961680386e-4
allele num: 7046
num of homozygotes: 0

South Asian
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Other
type: Population
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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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.90918e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.303e0

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.472e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45664
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.453065969195002e-4
allele num: 6882
num of homozygotes: 0

African
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6722
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11838
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4042
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.224298233907202e-5
allele num: 44958
num of homozygotes: 0

East Asian
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BaseQRankSum
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SIO_000300: 8.31e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.388801299507907e-5
allele num: 41862
num of homozygotes: 0

Latino
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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

East Asian
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South Asian
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Other
type: Population
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African
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

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

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

African
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allele count: 1
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allele num: 6364
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Other
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
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QD
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FS
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 1.508523155830442e-4
allele num: 13258
num of homozygotes: 0

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

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

Other
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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 (Finnish)
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allele frequency: 5.639097744360903e-4
allele num: 5320
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
allele num: 9054
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 7.016066792955869e-5
allele num: 57012
num of homozygotes: 0

East Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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DP
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FS
type: SiteQuality
SIO_000300: 1.165e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 2.9e-3

GenotypeQuality
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.756049590840445e-5
allele num: 56946
num of homozygotes: 0

African
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allele frequency: 1.1059500110595e-4
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East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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QD
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MQ
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.756049590840445e-5
allele num: 56946
num of homozygotes: 0

European (Finnish)
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South 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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57020
num of homozygotes: 0

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

Other
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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

Latino
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allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.750822886756776e-5
allele num: 57116
num of homozygotes: 0

African
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57062
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

African
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allele frequency: 2.4330900243309e-3
allele num: 9042
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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SIO_000300: 5.946e1

ReadPosRankSum
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SIO_000300: 6.1e-2

DP
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.490157755130532e-5
allele num: 57304
num of homozygotes: 0

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

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

Latino
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allele frequency: 3.680859530441703e-3
allele num: 10052
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Other
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allele num: 774
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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SIO_000300: 8.01e-1

DP
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SIO_000300: 1.274064e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

QD
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InbreedingCoeff
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SIO_000300: -1.6e-3

DP
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SIO_000300: 1.322993e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.732922053166049e-5
allele num: 57706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

FS
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SIO_000300: 4.109e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
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SIO_000300: 1.56e0

QD
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SIO_000300: 1.386e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728548710502662e-5
allele num: 57852
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

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

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

African
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allele frequency: 3.295254833040422e-4
allele num: 9104
num of homozygotes: 0

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

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

South Asian
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allele count: 0
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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

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

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

Latino
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allele count: 1
allele frequency: 9.885330170027679e-5
allele num: 10116
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57850
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Other
type: Population
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 3
allele frequency: 2.961500493583415e-4
allele num: 10130
num of homozygotes: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13900
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.745017973685129e-5
allele num: 57306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.796e1

VQSLOD
type: SiteQuality
SIO_000300: -2.108e0

FS
type: SiteQuality
SIO_000300: 1.316e0

QD
type: SiteQuality
SIO_000300: 6.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.607e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.356591e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeDepth
all individuals: 11103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5346
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.743557554834885e-5
allele num: 57354
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

QD
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SIO_000300: 1.062e1

DP
type: SiteQuality
SIO_000300: 1.359294e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.597e0

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57354
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13900
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.183882943874208e-4
allele num: 9158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
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SIO_000300: 2.48e-1

InbreedingCoeff
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SIO_000300: 1.5e-3

MQRankSum
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SIO_000300: -2.19e-1

FS
type: SiteQuality
SIO_000300: 4.597e0

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

DP
type: SiteQuality
SIO_000300: 1.359294e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
all individuals: 3150
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.210845111047014e-5
allele num: 13868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56964
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.023e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.353124e6

QD
type: SiteQuality
SIO_000300: 1.221e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

GenotypeDepth
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 284
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
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variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9140
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.210845111047014e-5
allele num: 13868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56990
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

FS
type: SiteQuality
SIO_000300: 1.204e0

ReadPosRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.353912e6

InbreedingCoeff
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SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.871e-1

MQRankSum
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SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

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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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.518277451359814e-5
allele num: 56846
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.853e0

ReadPosRankSum
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ClippingRankSum
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FS
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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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SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 2.02e0

GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5250
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African
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allele count: 6
allele frequency: 6.558810668998689e-4
allele num: 9148
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56722
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 471
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.036659877800407e-4
allele num: 9820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13772
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.337899e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.81e0

FS
type: SiteQuality
SIO_000300: 2.315e0

GenotypeDepth
all individuals: 193
bin: 7.25e1
variant carriers: 38

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 19

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 32030
bin: 6.25e1
variant carriers: 20

GenotypeQuality
all individuals: 13143
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 659
bin: 7.75e1
variant carriers: 15

GenotypeQuality
all individuals: 218
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 18

GenotypeQuality
all individuals: 721
bin: 3.75e1
variant carriers: 12

GenotypeQuality
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bin: 2.75e1
variant carriers: 5

GenotypeQuality
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bin: 2.5e0
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 10

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 9

GenotypeQuality
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bin: 1.25e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 12

GenotypeQuality
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bin: 9.75e1
variant carriers: 2045

GenotypeQuality
all individuals: 2800
bin: 6.75e1
variant carriers: 7

GenotypeQuality
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bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 373
bin: 8.25e1
variant carriers: 12

GenotypeQuality
all individuals: 649
bin: 7.25e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

Latino
type: Population
allele count: 112
allele frequency: 1.153450051493306e-2
allele num: 9710
num of homozygotes: 3

African
type: Population
allele count: 2253
allele frequency: 2.423623063683305e-1
allele num: 9296
num of homozygotes: 242

Other
type: Population
allele count: 6
allele frequency: 8.108108108108109e-3
allele num: 740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 5.413012882970661e-4
allele num: 55422
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.458363715910748e-4
allele num: 13714
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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.602e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

QD
type: SiteQuality
SIO_000300: 1.497e1

DP
type: SiteQuality
SIO_000300: 1.348059e6

GenotypeDepth
all individuals: 183
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 295
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 395
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.674174229341955e-5
allele num: 54434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13590
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.497e0

DP
type: SiteQuality
SIO_000300: 1.284388e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

GenotypeDepth
all individuals: 424
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variant carriers: 0

GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 2845
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 605
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 61
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28470
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variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9228
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.136105430583958e-4
allele num: 8802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.63e0

DP
type: SiteQuality
SIO_000300: 1.251675e6

FS
type: SiteQuality
SIO_000300: 9.718999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

VQSLOD
type: SiteQuality
SIO_000300: -1.832e0

GenotypeDepth
all individuals: 2147
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 376
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2135
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GenotypeQuality
all individuals: 25585
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variant carriers: 0

GenotypeQuality
all individuals: 419
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GenotypeQuality
all individuals: 173
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variant carriers: 0

GenotypeQuality
all individuals: 808
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GenotypeQuality
all individuals: 322
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 632
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variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.30467849734962e-4
allele num: 8678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.929533438814495e-5
allele num: 51826
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 1.4051e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
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SIO_000300: -1.951e0

QD
type: SiteQuality
SIO_000300: 8.26e0

VQSLOD
type: SiteQuality
SIO_000300: -9.471000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.211847e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2429
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GenotypeQuality
all individuals: 617
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4664
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.479289940828402e-3
allele num: 676
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 8.323244552058112e-4
allele num: 13216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51338
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.475e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
all individuals: 573
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13146
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.149161112387957e-4
allele num: 8702
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 1.1778100584979e-4
allele num: 50942
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.183583e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 7.676e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

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
all individuals: 269
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GenotypeQuality
all individuals: 2844
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.991873157517329e-5
allele num: 50204
num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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QD
type: SiteQuality
SIO_000300: 1.856e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.265e0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.02e0

GenotypeDepth
all individuals: 617
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.801529099703542e-5
allele num: 12818
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.611e0

DP
type: SiteQuality
SIO_000300: 1.120698e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.214e0

FS
type: SiteQuality
SIO_000300: 4.958e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.811e1

QD
type: SiteQuality
SIO_000300: 1.55e1

GenotypeQuality
all individuals: 356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
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variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.072624772011275e-5
allele num: 48248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

QD
type: SiteQuality
SIO_000300: 2.253e1

MQ
type: SiteQuality
SIO_000300: 6.003e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.439e0

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

DP
type: SiteQuality
SIO_000300: 1.103839e6

GenotypeDepth
all individuals: 310
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variant carriers: 0

GenotypeDepth
all individuals: 1628
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variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
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variant carriers: 0

GenotypeQuality
all individuals: 23343
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variant carriers: 0

GenotypeQuality
all individuals: 204
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2585
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1833
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
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variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.084114876411988e-5
allele num: 47982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12674
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.52e0

DP
type: SiteQuality
SIO_000300: 1.098239e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

GenotypeDepth
all individuals: 115
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variant carriers: 0

GenotypeDepth
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 125
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 455
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variant carriers: 0

GenotypeQuality
all individuals: 513
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24440
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
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variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.208577080089222e-5
allele num: 47522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4232
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.078226e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
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SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 550
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GenotypeQuality
all individuals: 160
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GenotypeQuality
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bin: 5.75e1
variant carriers: 2