17-7125503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125503
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125503
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.760G>A
  hgvsp: ENSP00000349297.5:p.Gly254Ser
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.829G>A
  hgvsp: ENSP00000438689.2:p.Gly277Ser
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*715G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.144G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*248G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.694G>A
  hgvsp: ENSP00000344152.5:p.Gly232Ser
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.932G>A
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly277Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

17-7125508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125508
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125508
    reference: chr 17
allele count: 5
allele frequency: 4.119091163725636e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*253A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*720A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.834A>G
  hgvsp: ENST00000543245.2:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.765A>G
  hgvsp: ENST00000356839.5:c.765A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.937A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.149A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.699A>G
  hgvsp: ENST00000350303.5:c.699A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 30887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu278Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-7125517-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125517
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125517
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.774C>A
  hgvsp: ENST00000356839.5:c.774C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.843C>A
  hgvsp: ENST00000543245.2:c.843C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.708C>A
  hgvsp: ENST00000350303.5:c.708C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*729C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*262C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.946C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.158C>A
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile281Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

17-7125522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125522
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125522
    reference: chr 17
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*734C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.779C>T
  hgvsp: ENSP00000349297.5:p.Thr260Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*267C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.163C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.713C>T
  hgvsp: ENSP00000344152.5:p.Thr238Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.848C>T
  hgvsp: ENSP00000438689.2:p.Thr283Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.951C>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr283Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-7125523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125523
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125523
    reference: chr 17
allele count: 52
allele frequency: 4.284772577455504e-4
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.952G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.714G>A
  hgvsp: ENST00000350303.5:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.780G>A
  hgvsp: ENST00000356839.5:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*735G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.164G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.849G>A
  hgvsp: ENST00000543245.2:c.849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*268G>A
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr283Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-7125525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125525
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125525
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.851T>C
  hgvsp: ENSP00000438689.2:p.Val284Ala
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*737T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*270T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.166T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.716T>C
  hgvsp: ENSP00000344152.5:p.Val239Ala
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.954T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.782T>C
  hgvsp: ENSP00000349297.5:p.Val261Ala
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11022
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val284Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-7125529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125529
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125529
    reference: chr 17
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.958T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.720T>C
  hgvsp: ENST00000350303.5:c.720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*274T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*741T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.855T>C
  hgvsp: ENST00000543245.2:c.855T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.786T>C
  hgvsp: ENST00000356839.5:c.786T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.170T>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe285Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-7125532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125532
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125532
    reference: chr 17
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*277C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.858C>T
  hgvsp: ENST00000543245.2:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.961C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.173C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.789C>T
  hgvsp: ENST00000356839.5:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.723C>T
  hgvsp: ENST00000350303.5:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*744C>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala286Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

17-7125540-CAGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125540
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125536
    reference: chr 17
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*287_*290delGTTA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.971_974delGTTA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.799_802delGTTA
  hgvsp: ENSP00000349297.5:p.Val267GlnfsTer8
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.868_871delGTTA
  hgvsp: ENSP00000438689.2:p.Val290GlnfsTer8
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.183_186delGTTA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*754_*757delGTTA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.733_736delGTTA
  hgvsp: ENSP00000344152.5:p.Val245GlnfsTer8
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val290GlnfsTer8
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CAGTT
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

17-7125549-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125549
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125549
    reference: chr 17
allele count: 4
allele frequency: 3.298044259753966e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.190A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.740A>T
  hgvsp: ENSP00000344152.5:p.Asp247Val
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.875A>T
  hgvsp: ENSP00000438689.2:p.Asp292Val
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*761A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.806A>T
  hgvsp: ENSP00000349297.5:p.Asp269Val
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*294A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.978A>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10872
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp292Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

17-7125550-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125550
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125550
    reference: chr 17
allele count: 41
allele frequency: 3.397302045010109e-4
allele num: 120684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.741T>C
  hgvsp: ENST00000350303.5:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.807T>C
  hgvsp: ENST00000356839.5:c.807T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.191T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.876T>C
  hgvsp: ENST00000543245.2:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*762T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*295T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.979T>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25801
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14739
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 3
hgvs: p.Asp292Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-7125561-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125561
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125561
    reference: chr 17
allele count: 33
allele frequency: 2.720617332805698e-4
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*306G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.752G>C
  hgvsp: ENSP00000344152.5:p.Gly251Ala
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.887G>C
  hgvsp: ENSP00000438689.2:p.Gly296Ala
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.202G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.818G>C
  hgvsp: ENSP00000349297.5:p.Gly273Ala
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*773G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.990G>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14910
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly296Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-7125563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125563
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125563
    reference: chr 17
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.820G>A
  hgvsp: ENSP00000349297.5:p.Ala274Thr
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.992G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.889G>A
  hgvsp: ENSP00000438689.2:p.Ala297Thr
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*775G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*308G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.204G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.754G>A
  hgvsp: ENSP00000344152.5:p.Ala252Thr
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala297Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-7125565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125565
    reference: chr 17
allele count: 8
allele frequency: 6.595870984763538e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.891C>T
  hgvsp: ENST00000543245.2:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.206C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.822C>T
  hgvsp: ENST00000356839.5:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*310C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.994C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.756C>T
  hgvsp: ENST00000350303.5:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*777C>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14921
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala297Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-7125566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125566
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125566
    reference: chr 17
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*778G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.823G>A
  hgvsp: ENSP00000349297.5:p.Val275Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.757G>A
  hgvsp: ENSP00000344152.5:p.Val253Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*311G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.892G>A
  hgvsp: ENSP00000438689.2:p.Val298Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.995G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.207G>A
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val298Met
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-7125567-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125567
    reference: chr 17
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.758T>A
  hgvsp: ENSP00000344152.5:p.Val253Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*312T>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.893T>A
  hgvsp: ENSP00000438689.2:p.Val298Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.824T>A
  hgvsp: ENSP00000349297.5:p.Val275Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.208T>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.996T>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*779T>A
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val298Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-7125568-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125568
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125568
    reference: chr 17
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*313G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.997G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.759G>T
  hgvsp: ENST00000350303.5:c.759G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.825G>T
  hgvsp: ENST00000356839.5:c.825G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.894G>T
  hgvsp: ENST00000543245.2:c.894G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.209G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*780G>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val298Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-7125569-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125569
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125566
    reference: chr 17
allele count: 14
allele frequency: 1.154315490913888e-4
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.763_765delGAG
  hgvsp: ENSP00000344152.5:p.Glu255del
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*317_*319delGAG
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.213_215delGAG
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*784_*786delGAG
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.829_831delGAG
  hgvsp: ENSP00000349297.5:p.Glu277del
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.898_900delGAG
  hgvsp: ENSP00000438689.2:p.Glu300del
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1001_1003delGAG
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26241
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu300del
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: AAGG
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-7125572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125572
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125572
    reference: chr 17
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1001G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.898G>A
  hgvsp: ENSP00000438689.2:p.Glu300Lys
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.213G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.763G>A
  hgvsp: ENSP00000344152.5:p.Glu255Lys
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*784G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*317G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.829G>A
  hgvsp: ENSP00000349297.5:p.Glu277Lys
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu300Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-7125572-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125572
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125569
    reference: chr 17
allele count: 2
allele frequency: 1.649538953862396e-5
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.767_769delAGA
  hgvsp: ENSP00000344152.5:p.Lys256del
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.217_219delAGA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*788_*790delAGA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*321_*323delAGA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1005_1007delAGA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.833_835delAGA
  hgvsp: ENSP00000349297.5:p.Lys278del
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.902_904delAGA
  hgvsp: ENSP00000438689.2:p.Lys301del
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys301del
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: GAGA
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-7125576-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125576
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125576
    reference: chr 17
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1005A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.902A>T
  hgvsp: ENSP00000438689.2:p.Lys301Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*321A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.767A>T
  hgvsp: ENSP00000344152.5:p.Lys256Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*788A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.833A>T
  hgvsp: ENSP00000349297.5:p.Lys278Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.217A>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys301Met
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-7125590-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125590
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125590
    reference: chr 17
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.847G>C
  hgvsp: ENSP00000349297.5:p.Val283Leu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.916G>C
  hgvsp: ENSP00000438689.2:p.Val306Leu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*335G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.231G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*802G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.781G>C
  hgvsp: ENSP00000344152.5:p.Val261Leu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1019G>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val306Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

17-7125591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125591
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125591
    reference: chr 17
allele count: 173
allele frequency: 1.428949020385238e-3
allele num: 121068
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1020T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.917T>C
  hgvsp: ENSP00000438689.2:p.Val306Ala
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.232T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.782T>C
  hgvsp: ENSP00000344152.5:p.Val261Ala
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.848T>C
  hgvsp: ENSP00000349297.5:p.Val283Ala
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*336T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*803T>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26113
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14858
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 9.75e1
  variant carriers: 173
hgvs: p.Val306Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-7125596-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125596
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125596
    reference: chr 17
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.922G>C
  hgvsp: ENSP00000438689.2:p.Glu308Gln
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.787G>C
  hgvsp: ENSP00000344152.5:p.Glu263Gln
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1025G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.237G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*808G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.853G>C
  hgvsp: ENSP00000349297.5:p.Glu285Gln
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*341G>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu308Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-7125598-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125598
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125598
    reference: chr 17
allele count: 2
allele frequency: 1.655300271469245e-5
allele num: 120824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.789G>C
  hgvsp: ENSP00000344152.5:p.Glu263Asp
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*343G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.855G>C
  hgvsp: ENSP00000349297.5:p.Glu285Asp
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1027G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.239G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*810G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.924G>C
  hgvsp: ENSP00000438689.2:p.Glu308Asp
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu308Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

17-7125599-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125599
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125599
    reference: chr 17
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*811A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.240A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.925A>G
  hgvsp: ENSP00000438689.2:p.Arg309Gly
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1028A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.856A>G
  hgvsp: ENSP00000349297.5:p.Arg286Gly
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*344A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.790A>G
  hgvsp: ENSP00000344152.5:p.Arg264Gly
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg309Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-7125601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125601
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125601
    reference: chr 17
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1030G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.792G>A
  hgvsp: ENST00000350303.5:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*346G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.242G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.858G>A
  hgvsp: ENST00000356839.5:c.858G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*813G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.927G>A
  hgvsp: ENST00000543245.2:c.927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg309Arg
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-7125606-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125606
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125606
    reference: chr 17
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1035T>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.932T>G
  hgvsp: ENSP00000438689.2:p.Phe311Cys
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.863T>G
  hgvsp: ENSP00000349297.5:p.Phe288Cys
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*351T>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.797T>G
  hgvsp: ENSP00000344152.5:p.Phe266Cys
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*818T>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.247T>G
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10731
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe311Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

17-7125607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125607
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125607
    reference: chr 17
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1036C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*352C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.864C>T
  hgvsp: ENST00000356839.5:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.798C>T
  hgvsp: ENST00000350303.5:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.248C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.933C>T
  hgvsp: ENST00000543245.2:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*819C>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe311Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-7125608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125608
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125608
    reference: chr 17
allele count: 11
allele frequency: 9.128327690367124e-5
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.934G>A
  hgvsp: ENSP00000438689.2:p.Gly312Arg
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.249G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.865G>A
  hgvsp: ENSP00000349297.5:p.Gly289Arg
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1037G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*820G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*353G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.799G>A
  hgvsp: ENSP00000344152.5:p.Gly267Arg
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly312Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

17-7125609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125609
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125609
    reference: chr 17
allele count: 2
allele frequency: 1.66013679527193e-5
allele num: 120472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*821G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.866G>A
  hgvsp: ENSP00000349297.5:p.Gly289Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.935G>A
  hgvsp: ENSP00000438689.2:p.Gly312Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.250G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*354G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1038G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.800G>A
  hgvsp: ENSP00000344152.5:p.Gly267Glu
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly312Glu
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: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-7125610-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125610
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125610
    reference: chr 17
allele count: 2
allele frequency: 1.660936435962596e-5
allele num: 120414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*355G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.936G>T
  hgvsp: ENST00000543245.2:c.936G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.801G>T
  hgvsp: ENST00000350303.5:c.801G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1039G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.251G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.867G>T
  hgvsp: ENST00000356839.5:c.867G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*822G>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly312Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-7125622-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125622
    reference: chr 17
allele count: 1
allele frequency: 8.360644772924887e-6
allele num: 119608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+1G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+1G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+1G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+1G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+1G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+1G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1051G>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.75e1
  variant carriers: 0
hgvs: c.947+1G>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

17-7125626-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125626
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125626
    reference: chr 17
allele count: 1
allele frequency: 8.39066957543212e-6
allele num: 119180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+5G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1055G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+5G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+5G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+5G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+5G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+5G>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 7.25e1
  variant carriers: 0
hgvs: c.947+5G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-7125634-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125634
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125634
    reference: chr 17
allele count: 1
allele frequency: 8.419634587858886e-6
allele num: 118770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+13G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+13G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+13G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1063G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+13G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+13G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+13G>C
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-7125639-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125639
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125639
    reference: chr 17
allele count: 1
allele frequency: 8.447230153232754e-6
allele num: 118382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+18G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+18G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+18G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+18G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1068G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+18G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+18G>C
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-7125643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125643
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125643
    reference: chr 17
allele count: 1
allele frequency: 8.458948721852847e-6
allele num: 118218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+22G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+22G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+22G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1072G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+22G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+22G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+22G>A
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/17-7125646-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125646
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125646
    reference: chr 17
allele count: 1
allele frequency: 8.477306251165629e-6
allele num: 117962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+25C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+25C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+25C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+25C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+25C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1075C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+25C>A
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11992
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-7125649-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125649
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125649
    reference: chr 17
allele count: 2
allele frequency: 1.69704374978787e-5
allele num: 117852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1078A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+28A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+28A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+28A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+28A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+28A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+28A>T
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

17-7125650-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125650
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125650
    reference: chr 17
allele count: 17
allele frequency: 1.443540580473142e-4
allele num: 117766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+29G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+29G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+29G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1079G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+29G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+29G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+29G>C
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19200
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11565
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20586
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-7125654-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125654
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125654
    reference: chr 17
allele count: 520
allele frequency: 4.423950587874972e-3
allele num: 117542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+33T>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1083T>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+33T>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+33T>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+33T>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+33T>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+33T>G
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 3.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 4.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 2.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 1.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 3.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19412
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 10
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

17-7125655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125655
    reference: chr 17
allele count: 8
allele frequency: 6.809206046574969e-5
allele num: 117488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+34G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1084G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+34G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+34G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+34G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+34G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+34G>A
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17563
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-7125657-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125657
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125657
    reference: chr 17
allele count: 1
allele frequency: 8.517162081594413e-6
allele num: 117410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+36G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+36G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+36G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+36G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+36G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1086G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+36G>C
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-7125658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125658
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125658
    reference: chr 17
allele count: 1
allele frequency: 8.551978927923921e-6
allele num: 116932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+37G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1087G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+37G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+37G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+37G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+37G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+37G>A
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-7125659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125659
    reference: chr 17
allele count: 2
allele frequency: 1.710425040622595e-5
allele num: 116930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+38G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1088G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+38G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+38G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+38G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+38G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+38G>A
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9913
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14349
  bin: 6.25e1
  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: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

17-7125667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125667
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125667
    reference: chr 17
allele count: 7
allele frequency: 6.043130687017629e-5
allele num: 115834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+46T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+46T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+46T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+46T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+46T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1096T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+46T>C
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11729
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-7125672-TCCTGGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125672
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125666
    reference: chr 17
allele count: 1
allele frequency: 8.643640009680878e-6
allele num: 115692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.262+53_262+58delCTGGGC
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.878+53_878+58delCTGGGC
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000577191
  gene symbol: ACADVL
  hgvsc: ENST00000577191.1:n.1103_1108delCTGGGC
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.812+53_812+58delCTGGGC
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*833+53_*833+58delCTGGGC
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.947+53_947+58delCTGGGC
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*366+53_*366+58delCTGGGC
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: TCCTGGG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-7125935-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125935
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125935
    reference: chr 17
allele count: 2
allele frequency: 3.060912151821243e-5
allele num: 65340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*834-51A>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.263-51A>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.879-51A>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.813-51A>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.948-51A>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*367-51A>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-7125936-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125936
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125936
    reference: chr 17
allele count: 421
allele frequency: 6.457649476945731e-3
allele num: 65194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*367-50G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.879-50G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.263-50G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.948-50G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.813-50G>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*834-50G>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 1.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 22544
  bin: 7.5e0
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 16168
  bin: 1.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 7305
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 6.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 5349
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.25e1
  variant carriers: 8
num of homozygotes: 15
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

17-7125943-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125943
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125943
    reference: chr 17
allele count: 1
allele frequency: 1.515059693351918e-5
allele num: 66004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.879-43C>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*367-43C>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*834-43C>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.263-43C>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.948-43C>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.813-43C>G
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-7125944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125944
    reference: chr 17
allele count: 1
allele frequency: 1.511395925276585e-5
allele num: 66164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.879-42C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*834-42C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*367-42C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.948-42C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.263-42C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.813-42C>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7084
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

17-7125955-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125955
    reference: chr 17
allele count: 1
allele frequency: 1.44881342180754e-5
allele num: 69022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.813-31A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.948-31A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.879-31A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*834-31A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.263-31A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*367-31A>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14999
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-7125961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125961
    reference: chr 17
allele count: 1
allele frequency: 1.367128756186258e-5
allele num: 73146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.3G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.263-25G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*367-25G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.813-25G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.948-25G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*834-25G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.879-25G>A
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12375
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

17-7125967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125967
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125967
    reference: chr 17
allele count: 1
allele frequency: 1.256155160285399e-5
allele num: 79608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.879-19C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.9C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.263-19C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*834-19C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*367-19C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.813-19C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.948-19C>T
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6625
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-7125970-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125970
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125970
    reference: chr 17
allele count: 12
allele frequency: 1.421767256700078e-4
allele num: 84402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.12C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*367-16C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.879-16C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.813-16C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.263-16C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*834-16C>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.948-16C>A
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21836
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

17-7125973-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125973
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125973
    reference: chr 17
allele count: 1
allele frequency: 1.130531123521831e-5
allele num: 88454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.263-13T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.813-13T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*834-13T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.15T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.948-13T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*367-13T>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.879-13T>C
  variant of: http://identifiers.org/hgnc/92
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24616
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

17-7125987-G-GGGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125987
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125991
    reference: chr 17
allele count: 2
allele frequency: 1.929607903673973e-5
allele num: 103648
alternate allele: GGGCC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.815_818dupGGCC
  hgvsp: ENSP00000344152.5:p.Pro274AlafsTer3
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.265_268dupGGCC
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.881_884dupGGCC
  hgvsp: ENSP00000349297.5:p.Pro296AlafsTer3
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.30_33dupGGCC
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.950_953dupGGCC
  hgvsp: ENSP00000438689.2:p.Pro319AlafsTer3
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*369_*372dupGGCC
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*836_*839dupGGCC
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32313
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro319AlafsTer3
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

17-7125988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125988
    reference: chr 17
allele count: 1
allele frequency: 9.573958831977023e-6
allele num: 104450
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.950G>A
  hgvsp: ENSP00000438689.2:p.Gly317Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.881G>A
  hgvsp: ENSP00000349297.5:p.Gly294Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.265G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*836G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.815G>A
  hgvsp: ENSP00000344152.5:p.Gly272Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.30G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*369G>A
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33492
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly317Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

17-7125993-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125991
    reference: chr 17
allele count: 3
allele frequency: 2.764467379284924e-5
allele num: 108520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*375_*376delCT
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.887_888delCT
  hgvsp: ENSP00000349297.5:p.Pro296ArgfsTer17
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.36_37delCT
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.956_957delCT
  hgvsp: ENSP00000438689.2:p.Pro319ArgfsTer17
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.821_822delCT
  hgvsp: ENSP00000344152.5:p.Pro274ArgfsTer17
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.271_272delCT
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*842_*843delCT
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro319ArgfsTer17
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: CCT
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

17-7125996-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125993
    reference: chr 17
allele count: 5
allele frequency: 4.507265712328273e-5
allele num: 110932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*384_*386delAGA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.830_832delAGA
  hgvsp: ENSP00000344152.5:p.Lys277del
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.896_898delAGA
  hgvsp: ENSP00000349297.5:p.Lys299del
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.965_967delAGA
  hgvsp: ENSP00000438689.2:p.Lys322del
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.280_282delAGA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*851_*853delAGA
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.45_47delAGA
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Lys322del
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: GAGA
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

17-7125999-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7125999
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7125999
    reference: chr 17
allele count: 1
allele frequency: 8.867449366864115e-6
allele num: 112772
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.961A>T
  hgvsp: ENSP00000438689.2:p.Lys321Ter
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.41A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*847A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.826A>T
  hgvsp: ENSP00000344152.5:p.Lys276Ter
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.276A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*380A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.892A>T
  hgvsp: ENSP00000349297.5:p.Lys298Ter
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys321Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-7126001-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126001
    reference: chr 17
allele count: 1
allele frequency: 8.796467338716771e-6
allele num: 113682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.894G>C
  hgvsp: ENSP00000349297.5:p.Lys298Asn
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*382G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*849G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.278G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.828G>C
  hgvsp: ENSP00000344152.5:p.Lys276Asn
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.963G>C
  hgvsp: ENSP00000438689.2:p.Lys321Asn
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.43G>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys321Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

17-7126003-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126003
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126003
    reference: chr 17
allele count: 2
allele frequency: 1.747426913869327e-5
allele num: 114454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*851A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.280A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*384A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.830A>T
  hgvsp: ENSP00000344152.5:p.Lys277Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.896A>T
  hgvsp: ENSP00000349297.5:p.Lys299Met
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.45A>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.965A>T
  hgvsp: ENSP00000438689.2:p.Lys322Met
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys322Met
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-7126004-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126004
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126004
    reference: chr 17
allele count: 1
allele frequency: 8.712774670221478e-6
allele num: 114774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.831G>C
  hgvsp: ENSP00000344152.5:p.Lys277Asn
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.966G>C
  hgvsp: ENSP00000438689.2:p.Lys322Asn
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.46G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*852G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*385G>C
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.897G>C
  hgvsp: ENSP00000349297.5:p.Lys299Asn
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.281G>C
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys322Asn
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

17-7126008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126008
    reference: chr 17
allele count: 1
allele frequency: 8.638413296245746e-6
allele num: 115762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*856G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.901G>A
  hgvsp: ENSP00000349297.5:p.Gly301Ser
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*389G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.50G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.285G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.970G>A
  hgvsp: ENSP00000438689.2:p.Gly324Ser
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.835G>A
  hgvsp: ENSP00000344152.5:p.Gly279Ser
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6644
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly324Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

17-7126014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126014
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126014
    reference: chr 17
allele count: 1
allele frequency: 8.525585281429571e-6
allele num: 117294
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.976A>G
  hgvsp: ENSP00000438689.2:p.Lys326Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.56A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.291A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*395A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.841A>G
  hgvsp: ENSP00000344152.5:p.Lys281Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.907A>G
  hgvsp: ENSP00000349297.5:p.Lys303Glu
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*862A>G
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys326Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-7126037-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126037
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126036
    reference: chr 17
allele count: 1
allele frequency: 8.345573507811457e-6
allele num: 119824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.932delT
  hgvsp: ENSP00000349297.5:p.Phe311SerfsTer42
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*420delT
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.1001delT
  hgvsp: ENSP00000438689.2:p.Phe334SerfsTer42
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.866delT
  hgvsp: ENSP00000344152.5:p.Phe289SerfsTer42
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.81delT
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*887delT
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.316delT
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43463
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe334SerfsTer42
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: GT
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-7126047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126047
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126047
    reference: chr 17
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.874G>A
  hgvsp: ENSP00000344152.5:p.Gly292Arg
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.940G>A
  hgvsp: ENSP00000349297.5:p.Gly314Arg
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.324G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.1009G>A
  hgvsp: ENSP00000438689.2:p.Gly337Arg
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*895G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*428G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.89G>A
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43923
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly337Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

17-7126052-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126052
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126052
    reference: chr 17
allele count: 2
allele frequency: 1.660633033312299e-5
allele num: 120436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.329A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.879A>G
  hgvsp: ENST00000350303.5:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.945A>G
  hgvsp: ENST00000356839.5:c.945A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.1014A>G
  hgvsp: ENST00000543245.2:c.1014A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*900A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*433A>G
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.94A>G
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11137
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val338Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-7126053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126053
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126053
    reference: chr 17
allele count: 3
allele frequency: 2.490577315821807e-5
allele num: 120454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.330C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*901C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*434C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.946C>T
  hgvsp: ENSP00000349297.5:p.Arg316Trp
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.1015C>T
  hgvsp: ENSP00000438689.2:p.Arg339Trp
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.880C>T
  hgvsp: ENSP00000344152.5:p.Arg294Trp
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.95C>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg339Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

17-7126054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126054
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126054
    reference: chr 17
allele count: 4
allele frequency: 3.318620781203332e-5
allele num: 120532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.331G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*435G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.947G>A
  hgvsp: ENSP00000349297.5:p.Arg316Gln
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*902G>A
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.881G>A
  hgvsp: ENSP00000344152.5:p.Arg294Gln
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.1016G>A
  hgvsp: ENSP00000438689.2:p.Arg339Gln
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.96G>A
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg339Gln
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-7126059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7126059
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7126059
    reference: chr 17
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000344152
  ensembl transcript: ENST00000350303
  gene symbol: ACADVL
  hgvsc: ENST00000350303.5:c.886C>T
  hgvsp: ENSP00000344152.5:p.Pro296Ser
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000349297
  ensembl transcript: ENST00000356839
  gene symbol: ACADVL
  hgvsc: ENST00000356839.5:c.952C>T
  hgvsp: ENSP00000349297.5:p.Pro318Ser
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000582379
  gene symbol: ACADVL
  hgvsc: ENST00000582379.1:n.336C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000325395
  ensembl transcript: ENST00000322910
  gene symbol: ACADVL
  hgvsc: ENST00000322910.5:c.*907C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000438689
  ensembl transcript: ENST00000543245
  gene symbol: ACADVL
  hgvsc: ENST00000543245.2:c.1021C>T
  hgvsp: ENSP00000438689.2:p.Pro341Ser
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072778
  ensembl transcript: ENST00000578824
  gene symbol: ACADVL
  hgvsc: ENST00000578824.1:n.101C>T
  variant of: http://identifiers.org/hgnc/92
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072778
  ensembl protein: ENSP00000462366
  ensembl transcript: ENST00000581378
  gene symbol: ACADVL
  hgvsc: ENST00000581378.1:c.*440C>T
  variant of: http://identifiers.org/hgnc/92
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro341Ser
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1604
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4476
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4594
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 7.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.806e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.834997e6

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-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
all individuals: 2
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.2e1

DP
type: SiteQuality
SIO_000300: 1.835128e6

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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Other
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 1.1895e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

DP
type: SiteQuality
SIO_000300: 1.834141e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.838e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.645e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.471e0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

DP
type: SiteQuality
SIO_000300: 1.834041e6

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.272e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-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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variant carriers: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 8.995502248875562e-5
allele num: 66700
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 36
allele frequency: 3.461538461538462e-3
allele num: 10400
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.184929139301763e-4
allele num: 11572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.836073e6

FS
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 6
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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
all individuals: 13
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GenotypeQuality
all individuals: 16
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.83289e6

VQSLOD
type: SiteQuality
SIO_000300: -7.564e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.554e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

FS
type: SiteQuality
SIO_000300: 1.864e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-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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bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

East Asian
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allele num: 8652
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e-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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variant carriers: 1

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.927e1

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.832324e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.569e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.018e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.000060000600006e-5
allele num: 66666
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East Asian
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.096934035305048e-4
allele num: 6458
num of homozygotes: 0

African
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allele count: 14
allele frequency: 1.361867704280156e-3
allele num: 10280
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.314550878355983e-4
allele num: 66374
num of homozygotes: 0

VQSLOD
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SIO_000300: -1.397e2

ClippingRankSum
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SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.835967e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.801e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

FS
type: SiteQuality
SIO_000300: 1.73061e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 33

GenotypeQuality
all individuals: 9
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 32
allele frequency: 3.082851637764933e-3
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.428e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 1.829053e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.34e1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.747e0

DP
type: SiteQuality
SIO_000300: 1.827777e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e0

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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variant carriers: 8

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.542701393095094e-4
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.999880002399952e-5
allele num: 66668
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.827802e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

FS
type: SiteQuality
SIO_000300: 2.684e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

DP
type: SiteQuality
SIO_000300: 1.827707e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.532e0

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeQuality
all individuals: 2842
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.167e0

QD
type: SiteQuality
SIO_000300: 1.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.827276e6

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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African
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allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66666
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 3
allele frequency: 2.89073039121218e-4
allele num: 10378
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.200012000120001e-4
allele num: 66666
num of homozygotes: 0

South Asian
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allele num: 16512
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Other
type: Population
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num of homozygotes: 0

QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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FS
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MQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
type: Population
allele count: 1
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allele num: 11560
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

African
type: Population
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allele frequency: 9.63948332369385e-5
allele num: 10374
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Other
type: Population
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Latino
type: Population
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.754e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.826566e6

MQRankSum
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SIO_000300: -1.872e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.642e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-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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variant carriers: 0

GenotypeQuality
all individuals: 31070
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 6.97e-1

BaseQRankSum
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SIO_000300: 4.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

DP
type: SiteQuality
SIO_000300: 1.826024e6

QD
type: SiteQuality
SIO_000300: 1.252e1

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.037e1

DP
type: SiteQuality
SIO_000300: 1.822552e6

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 19
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variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.327505625757314e-4
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 160
allele frequency: 2.404785523191151e-3
allele num: 66534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.619628162145687e-4
allele num: 6562
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.215e1

DP
type: SiteQuality
SIO_000300: 1.82554e6

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-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
all individuals: 10968
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GenotypeQuality
all individuals: 4304
bin: 9.75e1
variant carriers: 1

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.496e0

QD
type: SiteQuality
SIO_000300: 1.103e1

DP
type: SiteQuality
SIO_000300: 1.817184e6

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

FS
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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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
all individuals: 10902
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01295570955107e-5
allele num: 66380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.264e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.813791e6

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.055e1

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 1.813554e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

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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bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.809524e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
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East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.80456e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 1.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.921e1

VQSLOD
type: SiteQuality
SIO_000300: -2.365e0

GenotypeQuality
all individuals: 1200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.037e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.915e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4296
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.510528382828313e-4
allele num: 66202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

FS
type: SiteQuality
SIO_000300: 2.638e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.803366e6

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.945525291828794e-4
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66186
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: 2.14e0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 1.801029e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 7.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

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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GenotypeQuality
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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

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

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.799102e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

FS
type: SiteQuality
SIO_000300: 6.69e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-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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GenotypeQuality
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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

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.266e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.767417e6

FS
type: SiteQuality
SIO_000300: 7.302e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.848e1

VQSLOD
type: SiteQuality
SIO_000300: -1.391e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1166
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.011e0

DP
type: SiteQuality
SIO_000300: 1.74993e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.23e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65302
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.018e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.728509e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535862386730149e-5
allele num: 65110
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.22e1

FS
type: SiteQuality
SIO_000300: 1.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

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

DP
type: SiteQuality
SIO_000300: 1.702236e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.834e0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e-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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bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

QD
type: SiteQuality
SIO_000300: 3.065e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.197e0

DP
type: SiteQuality
SIO_000300: 1.679025e6

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.540784567501772e-5
allele num: 64902
num of homozygotes: 0

Other
type: Population
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allele num: 878
num of homozygotes: 0

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

DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.05e-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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variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.043735949315349e-4
allele num: 9786
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.044e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.439e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.768e0

DP
type: SiteQuality
SIO_000300: 1.644103e6

VQSLOD
type: SiteQuality
SIO_000300: -7.088e-1

GenotypeQuality
all individuals: 647
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
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variant carriers: 0

GenotypeQuality
all individuals: 2569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

East Asian
type: Population
allele count: 17
allele frequency: 1.978124272748429e-3
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.632458e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

FS
type: SiteQuality
SIO_000300: 6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.694e0

GenotypeQuality
all individuals: 1162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 500

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 9.25e1
variant carriers: 1

Other
type: Population
allele count: 2
allele frequency: 2.293577981651376e-3
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.075030750307503e-4
allele num: 9756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.317174900361479e-4
allele num: 64734
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.057529396889619e-4
allele num: 15818
num of homozygotes: 1

East Asian
type: Population
allele count: 490
allele frequency: 5.709624796084829e-2
allele num: 8582
num of homozygotes: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.747640685075148e-4
allele num: 11444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.396e1

DP
type: SiteQuality
SIO_000300: 1.611731e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.97e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

GenotypeQuality
all individuals: 1100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 9.75e1
variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 732
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variant carriers: 0

GenotypeQuality
all individuals: 3139
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variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.317493594223154e-4
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64678
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

DP
type: SiteQuality
SIO_000300: 1.598138e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.854e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
all individuals: 2499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 332
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GenotypeQuality
all individuals: 3106
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variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4147
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variant carriers: 1

GenotypeQuality
all individuals: 1501
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variant carriers: 0

GenotypeQuality
all individuals: 2316
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variant carriers: 0

GenotypeQuality
all individuals: 8264
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546646869586736e-5
allele num: 64656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.587e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 1.590752e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.698e0

QD
type: SiteQuality
SIO_000300: 1.008e1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.61e-1

GenotypeQuality
all individuals: 7023
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
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variant carriers: 0

GenotypeQuality
all individuals: 4102
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variant carriers: 0

GenotypeQuality
all individuals: 13900
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GenotypeQuality
all individuals: 2464
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variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 2177
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2870
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variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551253412757508e-5
allele num: 64464
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

FS
type: SiteQuality
SIO_000300: 6.163e0

VQSLOD
type: SiteQuality
SIO_000300: -2.735e0

DP
type: SiteQuality
SIO_000300: 1.557049e6

MQ
type: SiteQuality
SIO_000300: 5.855e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.199e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.469e0

GenotypeQuality
all individuals: 2459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
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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: 4144
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variant carriers: 2

GenotypeQuality
all individuals: 3545
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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: 7032
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variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.334267040149393e-4
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64470
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

DP
type: SiteQuality
SIO_000300: 1.555154e6

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 4.313e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.748e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
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GenotypeQuality
all individuals: 4342
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GenotypeQuality
all individuals: 5007
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GenotypeQuality
all individuals: 9684
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GenotypeQuality
all individuals: 2472
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variant carriers: 0

GenotypeQuality
all individuals: 1078
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2867
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variant carriers: 0

GenotypeQuality
all individuals: 4143
bin: 9.75e1
variant carriers: 7

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
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: 6244
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.094228725067217e-4
allele num: 63972
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.512856e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
all individuals: 2485
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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: 816
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 5017
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GenotypeQuality
all individuals: 1086
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GenotypeQuality
all individuals: 5299
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GenotypeQuality
all individuals: 2876
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564602434521388e-5
allele num: 63914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15322
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.388e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 7.2e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.506777e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.996e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

GenotypeQuality
all individuals: 1480
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
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GenotypeQuality
all individuals: 3161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
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variant carriers: 0

GenotypeQuality
all individuals: 6677
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 13223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.215330084182543e-4
allele num: 4514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.770236578203779e-5
allele num: 36098
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 3.103e0

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 1.000439e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

GenotypeQuality
all individuals: 7006
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 251
bin: 8.75e1
variant carriers: 27

GenotypeQuality
all individuals: 3168
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1816
bin: 4.75e1
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GenotypeQuality
all individuals: 6959
bin: 9.75e1
variant carriers: 428

GenotypeQuality
all individuals: 344
bin: 9.25e1
variant carriers: 21

GenotypeQuality
all individuals: 13118
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 373
bin: 7.25e1
variant carriers: 10

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.220125437087195e-4
allele num: 36034
num of homozygotes: 0

African
type: Population
allele count: 398
allele frequency: 6.780238500851789e-2
allele num: 5870
num of homozygotes: 15

Latino
type: Population
allele count: 13
allele frequency: 2.882483370288248e-3
allele num: 4510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.825150574922431e-4
allele num: 10958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4440
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

DP
type: SiteQuality
SIO_000300: 1.000877e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.533e1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1403
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18357
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.742430890741553e-5
allele num: 36464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11046
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

VQSLOD
type: SiteQuality
SIO_000300: -9.195e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.014689e6

GenotypeQuality
all individuals: 6616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1402
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.675603217158177e-4
allele num: 5968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2918
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.226e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.01806e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.76e0

GenotypeQuality
all individuals: 1127
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.619584010059203e-5
allele num: 38174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.288e0

DP
type: SiteQuality
SIO_000300: 1.070395e6

MQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

QD
type: SiteQuality
SIO_000300: 1.866e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 239
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variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.610297916307904e-5
allele num: 11614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.846e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.14242e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

VQSLOD
type: SiteQuality
SIO_000300: -6.64e-1

FS
type: SiteQuality
SIO_000300: 4.286e0

GenotypeQuality
all individuals: 19630
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 783
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.584786053882726e-4
allele num: 6310
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

DP
type: SiteQuality
SIO_000300: 1.23093e6

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.758e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 523
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.25e1
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GenotypeQuality
all individuals: 634
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variant carriers: 0

GenotypeQuality
all individuals: 488
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variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
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GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6642
bin: 9.75e1
variant carriers: 12

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47232
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.723147616312464e-3
allele num: 6964
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.936e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.147e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 1.280758e6

GenotypeQuality
all individuals: 685
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6630
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 498
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.018000565040158e-5
allele num: 49554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4064
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 1.321994e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.098e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.313e0

QD
type: SiteQuality
SIO_000300: 7.24e0

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

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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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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bin: 5.25e1
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GenotypeQuality
all individuals: 3104
bin: 6.75e1
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GenotypeQuality
all individuals: 606
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57926
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 2.08073241781107e-4
allele num: 9612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14080
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.123e0

DP
type: SiteQuality
SIO_000300: 1.477566e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 2.008e0

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.5e0
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GenotypeQuality
all individuals: 720
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GenotypeQuality
all individuals: 111
bin: 1.75e1
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GenotypeQuality
all individuals: 618
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GenotypeQuality
all individuals: 288
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GenotypeQuality
all individuals: 686
bin: 3.75e1
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GenotypeQuality
all individuals: 6637
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 8515
bin: 2.25e1
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GenotypeQuality
all individuals: 1180
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variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.713443679106268e-5
allele num: 58362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

DP
type: SiteQuality
SIO_000300: 1.485214e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 643
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variant carriers: 0

GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 20
bin: 2.5e0
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GenotypeQuality
all individuals: 46
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14582
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.767532721234616e-5
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.305566574110803e-5
allele num: 60504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.527709e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.46e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.423e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

MQ
type: SiteQuality
SIO_000300: 6.059e1

FS
type: SiteQuality
SIO_000300: 2.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 378
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.086720278200391e-4
allele num: 9202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.479621590099139e-5
allele num: 61732
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10524
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.805e0

DP
type: SiteQuality
SIO_000300: 1.552964e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 5.649e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.13e-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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15116
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595761657038905e-5
allele num: 62666
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.039e1

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 1.570442e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

FS
type: SiteQuality
SIO_000300: 3.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584886522125016e-5
allele num: 63096
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

QD
type: SiteQuality
SIO_000300: 3.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.827e0

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.580185e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 314
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.507027589796981e-5
allele num: 15368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574902356053925e-5
allele num: 63496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.134e1

FS
type: SiteQuality
SIO_000300: 4.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.586e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

DP
type: SiteQuality
SIO_000300: 1.588259e6

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.491820306413918e-5
allele num: 15404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
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FS
type: SiteQuality
SIO_000300: 6.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.59214e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.96e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178689297501179e-4
allele num: 8484
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

QD
type: SiteQuality
SIO_000300: 1.424e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.642e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.006238679814852e-4
allele num: 9938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.623118e6

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.614e0

QD
type: SiteQuality
SIO_000300: 1.408e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.33e-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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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515794579518584e-5
allele num: 65972
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 888
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South Asian
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.997e1

FS
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.234e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511395925276585e-5
allele num: 66164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

QD
type: SiteQuality
SIO_000300: 1.882e1

DP
type: SiteQuality
SIO_000300: 1.664361e6

FS
type: SiteQuality
SIO_000300: 7.489e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.667576e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.03e-1

FS
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

QD
type: SiteQuality
SIO_000300: 1.131e1

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6650
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018139015483053e-5
allele num: 66266
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.362e1

DP
type: SiteQuality
SIO_000300: 1.669589e6

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.689e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 2.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 44096
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4448
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.096817461285209e-5
allele num: 16402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.525706010137581e-5
allele num: 66288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

FS
type: SiteQuality
SIO_000300: 1.199e0

DP
type: SiteQuality
SIO_000300: 1.671144e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.127e1