17-40148325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148325
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148325
    reference: chr 17
allele count: 81
allele frequency: 6.731264646733259e-4
allele num: 120334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.237+4C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.237+4C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.405+4C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.237+4C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.237+4C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.237+4C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.237+4C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.366+4C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.237+4C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+808C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.405+4C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*484+4C>T
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 34837
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.405+4C>T
num of homozygotes: 2
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-40148346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148346
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148346
    reference: chr 17
allele count: 3
allele frequency: 2.485913158766987e-5
allele num: 120680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.349G>A
  hgvsp: ENSP00000464756.1:p.Ala117Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.220G>A
  hgvsp: ENSP00000468102.1:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.220G>A
  hgvsp: ENSP00000313311.7:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.388G>A
  hgvsp: ENSP00000466114.1:p.Ala130Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.220G>A
  hgvsp: ENSP00000467477.1:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.220G>A
  hgvsp: ENSP00000465340.1:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.220G>A
  hgvsp: ENSP00000465140.1:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*467G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.220G>A
  hgvsp: ENSP00000394327.2:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+787G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.388G>A
  hgvsp: ENSP00000406463.2:p.Ala130Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.220G>A
  hgvsp: ENSP00000466748.2:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.220G>A
  hgvsp: ENSP00000465228.1:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.220G>A
  hgvsp: ENSP00000465399.1:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala130Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-40148347-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148347
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148347
    reference: chr 17
allele count: 5
allele frequency: 4.142982616044943e-5
allele num: 120686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.219T>C
  hgvsp: ENST00000591787.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.219T>C
  hgvsp: ENST00000426588.3:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.387T>C
  hgvsp: ENST00000457167.4:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.219T>C
  hgvsp: ENST00000589576.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.219T>C
  hgvsp: ENST00000589773.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.219T>C
  hgvsp: ENST00000589810.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.387T>C
  hgvsp: ENST00000588814.1:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.219T>C
  hgvsp: ENST00000590886.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.348T>C
  hgvsp: ENST00000590348.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.219T>C
  hgvsp: ENST00000316603.7:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.219T>C
  hgvsp: ENST00000590774.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.219T>C
  hgvsp: ENST00000589586.2:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+786T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*466T>C
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn129Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

17-40148364-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148364
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148364
    reference: chr 17
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.202G>C
  hgvsp: ENSP00000394327.2:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.202G>C
  hgvsp: ENSP00000313311.7:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.370G>C
  hgvsp: ENSP00000466114.1:p.Glu124Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+769G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.202G>C
  hgvsp: ENSP00000465340.1:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.202G>C
  hgvsp: ENSP00000466748.2:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*449G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.202G>C
  hgvsp: ENSP00000467477.1:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.370G>C
  hgvsp: ENSP00000406463.2:p.Glu124Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.202G>C
  hgvsp: ENSP00000465140.1:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.331G>C
  hgvsp: ENSP00000464756.1:p.Glu111Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.202G>C
  hgvsp: ENSP00000465228.1:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.202G>C
  hgvsp: ENSP00000465399.1:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.202G>C
  hgvsp: ENSP00000468102.1:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu124Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-40148381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148381
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148381
    reference: chr 17
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.185G>A
  hgvsp: ENSP00000468102.1:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.185G>A
  hgvsp: ENSP00000465340.1:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.185G>A
  hgvsp: ENSP00000313311.7:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.353G>A
  hgvsp: ENSP00000406463.2:p.Ser118Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.353G>A
  hgvsp: ENSP00000466114.1:p.Ser118Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.185G>A
  hgvsp: ENSP00000394327.2:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.185G>A
  hgvsp: ENSP00000465140.1:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.185G>A
  hgvsp: ENSP00000467477.1:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*432G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.185G>A
  hgvsp: ENSP00000466748.2:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.314G>A
  hgvsp: ENSP00000464756.1:p.Ser105Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.185G>A
  hgvsp: ENSP00000465399.1:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+752G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.185G>A
  hgvsp: ENSP00000465228.1:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser118Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-40148384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148384
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148384
    reference: chr 17
allele count: 2
allele frequency: 1.656808655168415e-5
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.182G>A
  hgvsp: ENSP00000466748.2:p.Arg61His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.182G>A
  hgvsp: ENSP00000313311.7:p.Arg61His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.182G>A
  hgvsp: ENSP00000465340.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.182G>A
  hgvsp: ENSP00000394327.2:p.Arg61His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.311G>A
  hgvsp: ENSP00000464756.1:p.Arg104His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+749G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.182G>A
  hgvsp: ENSP00000465228.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.182G>A
  hgvsp: ENSP00000465140.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.182G>A
  hgvsp: ENSP00000465399.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.182G>A
  hgvsp: ENSP00000468102.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.350G>A
  hgvsp: ENSP00000406463.2:p.Arg117His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*429G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.182G>A
  hgvsp: ENSP00000467477.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.350G>A
  hgvsp: ENSP00000466114.1:p.Arg117His
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16770
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg117His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-40148385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148385
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148385
    reference: chr 17
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.181C>T
  hgvsp: ENSP00000465228.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.181C>T
  hgvsp: ENSP00000465340.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.181C>T
  hgvsp: ENSP00000394327.2:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.181C>T
  hgvsp: ENSP00000466748.2:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.181C>T
  hgvsp: ENSP00000313311.7:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.349C>T
  hgvsp: ENSP00000466114.1:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.181C>T
  hgvsp: ENSP00000465140.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.181C>T
  hgvsp: ENSP00000468102.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+748C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.310C>T
  hgvsp: ENSP00000464756.1:p.Arg104Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*428C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.181C>T
  hgvsp: ENSP00000467477.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.181C>T
  hgvsp: ENSP00000465399.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.349C>T
  hgvsp: ENSP00000406463.2:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg117Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ

17-40148394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148394
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148394
    reference: chr 17
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.340G>A
  hgvsp: ENSP00000406463.2:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.172G>A
  hgvsp: ENSP00000468102.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.172G>A
  hgvsp: ENSP00000465228.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.172G>A
  hgvsp: ENSP00000465340.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.172G>A
  hgvsp: ENSP00000465399.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.172G>A
  hgvsp: ENSP00000394327.2:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.172G>A
  hgvsp: ENSP00000466748.2:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+739G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.301G>A
  hgvsp: ENSP00000464756.1:p.Ala101Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*419G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.172G>A
  hgvsp: ENSP00000467477.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.172G>A
  hgvsp: ENSP00000313311.7:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.172G>A
  hgvsp: ENSP00000465140.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.340G>A
  hgvsp: ENSP00000466114.1:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala114Thr
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-40148400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148400
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148400
    reference: chr 17
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.334G>A
  hgvsp: ENSP00000466114.1:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.166G>A
  hgvsp: ENSP00000394327.2:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.166G>A
  hgvsp: ENSP00000468102.1:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.166G>A
  hgvsp: ENSP00000465228.1:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.166G>A
  hgvsp: ENSP00000467477.1:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.166G>A
  hgvsp: ENSP00000313311.7:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.166G>A
  hgvsp: ENSP00000465140.1:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.295G>A
  hgvsp: ENSP00000464756.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.334G>A
  hgvsp: ENSP00000406463.2:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.166G>A
  hgvsp: ENSP00000465399.1:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.166G>A
  hgvsp: ENSP00000465340.1:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*413G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+733G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.166G>A
  hgvsp: ENSP00000466748.2:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala112Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

17-40148407-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148407
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148407
    reference: chr 17
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.327G>C
  hgvsp: ENST00000588814.1:c.327G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.159G>C
  hgvsp: ENST00000590774.1:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+726G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.288G>C
  hgvsp: ENST00000590348.1:c.288G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.159G>C
  hgvsp: ENST00000591787.1:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.159G>C
  hgvsp: ENST00000589586.2:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.159G>C
  hgvsp: ENST00000590886.1:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.159G>C
  hgvsp: ENST00000589810.1:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*406G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.159G>C
  hgvsp: ENST00000426588.3:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.159G>C
  hgvsp: ENST00000316603.7:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.159G>C
  hgvsp: ENST00000589576.1:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.327G>C
  hgvsp: ENST00000457167.4:c.327G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.159G>C
  hgvsp: ENST00000589773.1:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu109Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-40148407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148407
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148407
    reference: chr 17
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.288G>A
  hgvsp: ENST00000590348.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.159G>A
  hgvsp: ENST00000426588.3:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.327G>A
  hgvsp: ENST00000457167.4:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.159G>A
  hgvsp: ENST00000589576.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.159G>A
  hgvsp: ENST00000590774.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.159G>A
  hgvsp: ENST00000590886.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.159G>A
  hgvsp: ENST00000591787.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.159G>A
  hgvsp: ENST00000589586.2:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.159G>A
  hgvsp: ENST00000589810.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.159G>A
  hgvsp: ENST00000589773.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.327G>A
  hgvsp: ENST00000588814.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.159G>A
  hgvsp: ENST00000316603.7:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*406G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+726G>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu109Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-40148413-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148413
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148413
    reference: chr 17
allele count: 2
allele frequency: 1.657742486282181e-5
allele num: 120646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.153C>G
  hgvsp: ENST00000589773.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.153C>G
  hgvsp: ENST00000316603.7:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.153C>G
  hgvsp: ENST00000591787.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*400C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.153C>G
  hgvsp: ENST00000590774.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.321C>G
  hgvsp: ENST00000588814.1:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.321C>G
  hgvsp: ENST00000457167.4:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.282C>G
  hgvsp: ENST00000590348.1:c.282C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.153C>G
  hgvsp: ENST00000589576.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.153C>G
  hgvsp: ENST00000426588.3:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.153C>G
  hgvsp: ENST00000590886.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.153C>G
  hgvsp: ENST00000589810.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.153C>G
  hgvsp: ENST00000589586.2:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+720C>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu107Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-40148416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148416
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148416
    reference: chr 17
allele count: 119
allele frequency: 9.865530334433189e-4
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.279C>T
  hgvsp: ENST00000590348.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.150C>T
  hgvsp: ENST00000589586.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.318C>T
  hgvsp: ENST00000457167.4:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.150C>T
  hgvsp: ENST00000316603.7:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.150C>T
  hgvsp: ENST00000590774.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.150C>T
  hgvsp: ENST00000591787.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.150C>T
  hgvsp: ENST00000589576.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.150C>T
  hgvsp: ENST00000589773.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.150C>T
  hgvsp: ENST00000426588.3:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.150C>T
  hgvsp: ENST00000589810.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.150C>T
  hgvsp: ENST00000590886.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.318C>T
  hgvsp: ENST00000588814.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+717C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*397C>T
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His106His
num of homozygotes: 2
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

17-40148423-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148423
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148423
    reference: chr 17
allele count: 2
allele frequency: 1.659558225600345e-5
allele num: 120514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.272A>G
  hgvsp: ENSP00000464756.1:p.Lys91Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.311A>G
  hgvsp: ENSP00000406463.2:p.Lys104Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.143A>G
  hgvsp: ENSP00000465399.1:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.143A>G
  hgvsp: ENSP00000394327.2:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.311A>G
  hgvsp: ENSP00000466114.1:p.Lys104Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+710A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.143A>G
  hgvsp: ENSP00000466748.2:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*390A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.143A>G
  hgvsp: ENSP00000465140.1:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.143A>G
  hgvsp: ENSP00000465340.1:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.143A>G
  hgvsp: ENSP00000468102.1:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.143A>G
  hgvsp: ENSP00000313311.7:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.143A>G
  hgvsp: ENSP00000467477.1:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.143A>G
  hgvsp: ENSP00000465228.1:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys104Arg
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

17-40148428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148428
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148428
    reference: chr 17
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.138G>A
  hgvsp: ENST00000316603.7:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.138G>A
  hgvsp: ENST00000589586.2:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.138G>A
  hgvsp: ENST00000589810.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.138G>A
  hgvsp: ENST00000589773.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+705G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.138G>A
  hgvsp: ENST00000591787.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.267G>A
  hgvsp: ENST00000590348.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.138G>A
  hgvsp: ENST00000590886.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.306G>A
  hgvsp: ENST00000588814.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.306G>A
  hgvsp: ENST00000457167.4:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.138G>A
  hgvsp: ENST00000426588.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.138G>A
  hgvsp: ENST00000590774.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*385G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.138G>A
  hgvsp: ENST00000589576.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu102Glu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-40148438-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148438
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148438
    reference: chr 17
allele count: 2
allele frequency: 1.668362835549475e-5
allele num: 119878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.128A>G
  hgvsp: ENSP00000465140.1:p.His43Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*375A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.128A>G
  hgvsp: ENSP00000465340.1:p.His43Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.296A>G
  hgvsp: ENSP00000466114.1:p.His99Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.296A>G
  hgvsp: ENSP00000406463.2:p.His99Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.257A>G
  hgvsp: ENSP00000464756.1:p.His86Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.128A>G
  hgvsp: ENSP00000467477.1:p.His43Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+695A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.128A>G
  hgvsp: ENSP00000394327.2:p.His43Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.128A>G
  hgvsp: ENSP00000313311.7:p.His43Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.128A>G
  hgvsp: ENSP00000468102.1:p.His43Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.128A>G
  hgvsp: ENSP00000465228.1:p.His43Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.128A>G
  hgvsp: ENSP00000466748.2:p.His43Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.128A>G
  hgvsp: ENSP00000465399.1:p.His43Arg
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His99Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-40148447-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148447
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148447
    reference: chr 17
allele count: 1
allele frequency: 8.461095881138525e-6
allele num: 118188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-5T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+686T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-5T>C
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.292-5T>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP

17-40148450-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148450
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148450
    reference: chr 17
allele count: 1
allele frequency: 8.461525443807009e-6
allele num: 118182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+683T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-8T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-8T>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.292-8T>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-40148451-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148451
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148451
    reference: chr 17
allele count: 1
allele frequency: 8.478168715557439e-6
allele num: 117950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+682T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-9T>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-9T>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16166
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-40148455-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148455
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148455
    reference: chr 17
allele count: 2
allele frequency: 1.709167977028783e-5
allele num: 117016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+678G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-13G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-13G>C
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

17-40148458-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148458
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148458
    reference: chr 17
allele count: 1
allele frequency: 8.579566903462713e-6
allele num: 116556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+675C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-16C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-16C>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

17-40148464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148464
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148464
    reference: chr 17
allele count: 1
allele frequency: 8.645732466454558e-6
allele num: 115664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+669T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-22T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-22T>C
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

17-40148470-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148470
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148470
    reference: chr 17
allele count: 1
allele frequency: 8.704886923518864e-6
allele num: 114878
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+663C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-28C>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-28C>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

17-40148473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148473
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148473
    reference: chr 17
allele count: 1
allele frequency: 8.759175236059772e-6
allele num: 114166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+660C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-31C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-31C>T
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-40148480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148480
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148480
    reference: chr 17
allele count: 5
allele frequency: 4.458712323880864e-5
allele num: 112140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+653A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-38A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-38A>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15387
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-40148483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148483
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148483
    reference: chr 17
allele count: 2
allele frequency: 1.801996612246369e-5
allele num: 110988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+650G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-41G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-41G>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17971
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-40148484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40148484
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40148484
    reference: chr 17
allele count: 1
allele frequency: 9.030976248532467e-6
allele num: 110730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.124-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.292-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.124-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.124-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+649G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.124-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.292-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.124-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.253-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*371-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.124-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.124-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.124-42G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.124-42G>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-40149090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149090
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149090
    reference: chr 17
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.123+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.123+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.123+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.123+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*370+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.123+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.123+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.291+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.123+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.291+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.123+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.123+43C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.252+43C>T
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

17-40149093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149093
    reference: chr 17
allele count: 6
allele frequency: 4.977022744993944e-5
allele num: 120554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.123+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.123+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.123+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.123+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.123+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.252+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.123+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.291+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.291+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.123+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.123+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.123+40C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*370+40C>T
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29392
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-40149109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149109
    reference: chr 17
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.123+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.291+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.123+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.123+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.123+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.123+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.291+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.123+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.123+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*370+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.123+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.252+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+24G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.123+24G>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-40149110-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149110
    reference: chr 17
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*370+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.123+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.252+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.123+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.123+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.123+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.123+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.123+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.123+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.291+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.291+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.123+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+23T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.123+23T>C
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

17-40149118-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149118
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149118
    reference: chr 17
allele count: 4
allele frequency: 3.314331167970303e-5
allele num: 120688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.123+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.123+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.123+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.123+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.291+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.123+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.123+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.123+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.291+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.123+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.123+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.252+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*370+15G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.291+15G>C
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-40149143-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149143
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149143
    reference: chr 17
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.113G>C
  hgvsp: ENSP00000313311.7:p.Ser38Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.281G>C
  hgvsp: ENSP00000468805.1:p.Ser94Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.113G>C
  hgvsp: ENSP00000465399.1:p.Ser38Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.113G>C
  hgvsp: ENSP00000465140.1:p.Ser38Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.281G>C
  hgvsp: ENSP00000406463.2:p.Ser94Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.113G>C
  hgvsp: ENSP00000466748.2:p.Ser38Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.113G>C
  hgvsp: ENSP00000465340.1:p.Ser38Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.113G>C
  hgvsp: ENSP00000468102.1:p.Ser38Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.113G>C
  hgvsp: ENSP00000465228.1:p.Ser38Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.113G>C
  hgvsp: ENSP00000467477.1:p.Ser38Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.242G>C
  hgvsp: ENSP00000464756.1:p.Ser81Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.281G>C
  hgvsp: ENSP00000466114.1:p.Ser94Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.113G>C
  hgvsp: ENSP00000394327.2:p.Ser38Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*360G>C
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser94Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-40149144-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149144
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149144
    reference: chr 17
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.241A>T
  hgvsp: ENSP00000464756.1:p.Ser81Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.112A>T
  hgvsp: ENSP00000467477.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.280A>T
  hgvsp: ENSP00000466114.1:p.Ser94Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.112A>T
  hgvsp: ENSP00000466748.2:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*359A>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.112A>T
  hgvsp: ENSP00000465399.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.112A>T
  hgvsp: ENSP00000465228.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.112A>T
  hgvsp: ENSP00000465140.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.280A>T
  hgvsp: ENSP00000468805.1:p.Ser94Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.112A>T
  hgvsp: ENSP00000465340.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.112A>T
  hgvsp: ENSP00000468102.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.112A>T
  hgvsp: ENSP00000394327.2:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.280A>T
  hgvsp: ENSP00000406463.2:p.Ser94Cys
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.112A>T
  hgvsp: ENSP00000313311.7:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser94Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

17-40149147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149147
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149147
    reference: chr 17
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.109G>A
  hgvsp: ENSP00000465340.1:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.109G>A
  hgvsp: ENSP00000465399.1:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.109G>A
  hgvsp: ENSP00000468102.1:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.109G>A
  hgvsp: ENSP00000394327.2:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.109G>A
  hgvsp: ENSP00000467477.1:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.277G>A
  hgvsp: ENSP00000468805.1:p.Asp93Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*356G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.109G>A
  hgvsp: ENSP00000465140.1:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.109G>A
  hgvsp: ENSP00000466748.2:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.238G>A
  hgvsp: ENSP00000464756.1:p.Asp80Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.109G>A
  hgvsp: ENSP00000465228.1:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.109G>A
  hgvsp: ENSP00000313311.7:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.277G>A
  hgvsp: ENSP00000466114.1:p.Asp93Asn
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.277G>A
  hgvsp: ENSP00000406463.2:p.Asp93Asn
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp93Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-40149153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149153
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149153
    reference: chr 17
allele count: 10
allele frequency: 8.287750704458811e-5
allele num: 120660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*350T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.103T>C
  hgvsp: ENST00000589810.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.103T>C
  hgvsp: ENST00000590886.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.271T>C
  hgvsp: ENST00000457167.4:c.271T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.103T>C
  hgvsp: ENST00000426588.3:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.103T>C
  hgvsp: ENST00000590774.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.103T>C
  hgvsp: ENST00000591787.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.103T>C
  hgvsp: ENST00000316603.7:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.271T>C
  hgvsp: ENST00000588641.1:c.271T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.103T>C
  hgvsp: ENST00000589586.2:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.271T>C
  hgvsp: ENST00000588814.1:c.271T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.232T>C
  hgvsp: ENST00000590348.1:c.232T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.103T>C
  hgvsp: ENST00000589576.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.103T>C
  hgvsp: ENST00000589773.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu91Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-40149162-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149162
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149162
    reference: chr 17
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.94T>G
  hgvsp: ENSP00000313311.7:p.Ser32Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.94T>G
  hgvsp: ENSP00000465140.1:p.Ser32Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.262T>G
  hgvsp: ENSP00000406463.2:p.Ser88Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.94T>G
  hgvsp: ENSP00000466748.2:p.Ser32Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.94T>G
  hgvsp: ENSP00000467477.1:p.Ser32Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.223T>G
  hgvsp: ENSP00000464756.1:p.Ser75Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.94T>G
  hgvsp: ENSP00000465399.1:p.Ser32Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.262T>G
  hgvsp: ENSP00000468805.1:p.Ser88Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.94T>G
  hgvsp: ENSP00000394327.2:p.Ser32Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.94T>G
  hgvsp: ENSP00000465340.1:p.Ser32Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*341T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.94T>G
  hgvsp: ENSP00000468102.1:p.Ser32Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.262T>G
  hgvsp: ENSP00000466114.1:p.Ser88Ala
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.94T>G
  hgvsp: ENSP00000465228.1:p.Ser32Ala
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser88Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-40149188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149188
    reference: chr 17
allele count: 3
allele frequency: 2.496297159213833e-5
allele num: 120178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.68G>A
  hgvsp: ENSP00000313311.7:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.68G>A
  hgvsp: ENSP00000465399.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.68G>A
  hgvsp: ENSP00000394327.2:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.68G>A
  hgvsp: ENSP00000465140.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.236G>A
  hgvsp: ENSP00000406463.2:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.68G>A
  hgvsp: ENSP00000466748.2:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.68G>A
  hgvsp: ENSP00000465340.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.68G>A
  hgvsp: ENSP00000465228.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.236G>A
  hgvsp: ENSP00000466114.1:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.68G>A
  hgvsp: ENSP00000467477.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.68G>A
  hgvsp: ENSP00000468102.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.236G>A
  hgvsp: ENSP00000468805.1:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*315G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.197G>A
  hgvsp: ENSP00000464756.1:p.Arg66Gln
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg79Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-40149189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149189
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149189
    reference: chr 17
allele count: 1
allele frequency: 8.320575118152166e-6
allele num: 120184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.67C>T
  hgvsp: ENSP00000468102.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.67C>T
  hgvsp: ENSP00000465340.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*314C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.67C>T
  hgvsp: ENSP00000466748.2:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.67C>T
  hgvsp: ENSP00000465140.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.67C>T
  hgvsp: ENSP00000313311.7:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.235C>T
  hgvsp: ENSP00000406463.2:p.Arg79Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.67C>T
  hgvsp: ENSP00000394327.2:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.235C>T
  hgvsp: ENSP00000466114.1:p.Arg79Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.67C>T
  hgvsp: ENSP00000467477.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.67C>T
  hgvsp: ENSP00000465399.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.235C>T
  hgvsp: ENSP00000468805.1:p.Arg79Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.67C>T
  hgvsp: ENSP00000465228.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.196C>T
  hgvsp: ENSP00000464756.1:p.Arg66Trp
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg79Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-40149193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149193
    reference: chr 17
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.63G>A
  hgvsp: ENST00000316603.7:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.231G>A
  hgvsp: ENST00000588641.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.63G>A
  hgvsp: ENST00000589773.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.63G>A
  hgvsp: ENST00000591787.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.63G>A
  hgvsp: ENST00000426588.3:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.231G>A
  hgvsp: ENST00000457167.4:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.63G>A
  hgvsp: ENST00000589810.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.192G>A
  hgvsp: ENST00000590348.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*310G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.63G>A
  hgvsp: ENST00000590774.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.63G>A
  hgvsp: ENST00000589586.2:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.63G>A
  hgvsp: ENST00000589576.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.63G>A
  hgvsp: ENST00000590886.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.231G>A
  hgvsp: ENST00000588814.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg77Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

17-40149209-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149209
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149209
    reference: chr 17
allele count: 2
allele frequency: 1.677486454296882e-5
allele num: 119226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.47T>C
  hgvsp: ENSP00000465228.1:p.Leu16Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*294T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.47T>C
  hgvsp: ENSP00000465340.1:p.Leu16Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.47T>C
  hgvsp: ENSP00000467477.1:p.Leu16Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.47T>C
  hgvsp: ENSP00000466748.2:p.Leu16Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.47T>C
  hgvsp: ENSP00000468102.1:p.Leu16Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.47T>C
  hgvsp: ENSP00000465399.1:p.Leu16Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.47T>C
  hgvsp: ENSP00000465140.1:p.Leu16Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.176T>C
  hgvsp: ENSP00000464756.1:p.Leu59Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.47T>C
  hgvsp: ENSP00000394327.2:p.Leu16Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.215T>C
  hgvsp: ENSP00000406463.2:p.Leu72Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.47T>C
  hgvsp: ENSP00000313311.7:p.Leu16Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.215T>C
  hgvsp: ENSP00000468805.1:p.Leu72Ser
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.215T>C
  hgvsp: ENSP00000466114.1:p.Leu72Ser
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu72Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-40149220-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149220
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149220
    reference: chr 17
allele count: 1
allele frequency: 8.486082824168364e-6
allele num: 117840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.36A>G
  hgvsp: ENST00000426588.3:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.36A>G
  hgvsp: ENST00000591787.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.36A>G
  hgvsp: ENST00000589586.2:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.36A>G
  hgvsp: ENST00000590774.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.36A>G
  hgvsp: ENST00000589810.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.204A>G
  hgvsp: ENST00000588641.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*283A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.36A>G
  hgvsp: ENST00000589773.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.165A>G
  hgvsp: ENST00000590348.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.204A>G
  hgvsp: ENST00000588814.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.36A>G
  hgvsp: ENST00000590886.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.204A>G
  hgvsp: ENST00000457167.4:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.36A>G
  hgvsp: ENST00000316603.7:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.36A>G
  hgvsp: ENST00000589576.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg68Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

17-40149229-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149229
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149229
    reference: chr 17
allele count: 3
allele frequency: 2.581222466960352e-5
allele num: 116224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.27T>C
  hgvsp: ENST00000589773.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.27T>C
  hgvsp: ENST00000591787.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.27T>C
  hgvsp: ENST00000590774.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.195T>C
  hgvsp: ENST00000588814.1:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.27T>C
  hgvsp: ENST00000426588.3:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.27T>C
  hgvsp: ENST00000589810.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.27T>C
  hgvsp: ENST00000589576.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.195T>C
  hgvsp: ENST00000588641.1:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.27T>C
  hgvsp: ENST00000589586.2:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.27T>C
  hgvsp: ENST00000316603.7:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*274T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.195T>C
  hgvsp: ENST00000457167.4:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.156T>C
  hgvsp: ENST00000590348.1:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.27T>C
  hgvsp: ENST00000590886.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr65Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

17-40149242-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149242
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149242
    reference: chr 17
allele count: 1
allele frequency: 8.841107613961877e-6
allele num: 113108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.14A>T
  hgvsp: ENSP00000465140.1:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.143A>T
  hgvsp: ENSP00000464756.1:p.Asn48Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.182A>T
  hgvsp: ENSP00000466114.1:p.Asn61Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.14A>T
  hgvsp: ENSP00000313311.7:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*261A>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.14A>T
  hgvsp: ENSP00000466748.2:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.182A>T
  hgvsp: ENSP00000406463.2:p.Asn61Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.14A>T
  hgvsp: ENSP00000465228.1:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.14A>T
  hgvsp: ENSP00000467477.1:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.14A>T
  hgvsp: ENSP00000394327.2:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.14A>T
  hgvsp: ENSP00000468102.1:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.182A>T
  hgvsp: ENSP00000468805.1:p.Asn61Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.14A>T
  hgvsp: ENSP00000465399.1:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.14A>T
  hgvsp: ENSP00000465340.1:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn61Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-40149246-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149246
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149246
    reference: chr 17
allele count: 1
allele frequency: 8.936550491510277e-6
allele num: 111900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.10A>G
  hgvsp: ENSP00000394327.2:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.139A>G
  hgvsp: ENSP00000464756.1:p.Lys47Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.10A>G
  hgvsp: ENSP00000465228.1:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.10A>G
  hgvsp: ENSP00000467477.1:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.178A>G
  hgvsp: ENSP00000466114.1:p.Lys60Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.10A>G
  hgvsp: ENSP00000465140.1:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.10A>G
  hgvsp: ENSP00000466748.2:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.10A>G
  hgvsp: ENSP00000465340.1:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*257A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.10A>G
  hgvsp: ENSP00000313311.7:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.10A>G
  hgvsp: ENSP00000468102.1:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.10A>G
  hgvsp: ENSP00000465399.1:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.178A>G
  hgvsp: ENSP00000406463.2:p.Lys60Glu
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.178A>G
  hgvsp: ENSP00000468805.1:p.Lys60Glu
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys60Glu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS

17-40149252-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149252
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149252
    reference: chr 17
allele count: 1
allele frequency: 9.116102683780629e-6
allele num: 109696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.4T>C
  hgvsp: ENSP00000467477.1:p.Cys2Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.4T>C
  hgvsp: ENSP00000466748.2:p.Cys2Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.4T>C
  hgvsp: ENSP00000465228.1:p.Cys2Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.172T>C
  hgvsp: ENSP00000406463.2:p.Cys58Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.4T>C
  hgvsp: ENSP00000394327.2:p.Cys2Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*251T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.172T>C
  hgvsp: ENSP00000466114.1:p.Cys58Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.4T>C
  hgvsp: ENSP00000313311.7:p.Cys2Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.4T>C
  hgvsp: ENSP00000468102.1:p.Cys2Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.4T>C
  hgvsp: ENSP00000465140.1:p.Cys2Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.172T>C
  hgvsp: ENSP00000468805.1:p.Cys58Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.4T>C
  hgvsp: ENSP00000465340.1:p.Cys2Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.4T>C
  hgvsp: ENSP00000465399.1:p.Cys2Arg
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.133T>C
  hgvsp: ENSP00000464756.1:p.Cys45Arg
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys58Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-40149254-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149254
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149254
    reference: chr 17
allele count: 5
allele frequency: 4.57339382408898e-5
allele num: 109328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.2T>C
  hgvsp: ENSP00000465228.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.170T>C
  hgvsp: ENSP00000466114.1:p.Met57Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*249T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.2T>C
  hgvsp: ENSP00000467477.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.2T>C
  hgvsp: ENSP00000465340.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.2T>C
  hgvsp: ENSP00000394327.2:p.Met1?
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.2T>C
  hgvsp: ENSP00000465399.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.131T>C
  hgvsp: ENSP00000464756.1:p.Met44Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.2T>C
  hgvsp: ENSP00000465140.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.170T>C
  hgvsp: ENSP00000468805.1:p.Met57Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.2T>C
  hgvsp: ENSP00000313311.7:p.Met1?
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.2T>C
  hgvsp: ENSP00000468102.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.170T>C
  hgvsp: ENSP00000406463.2:p.Met57Thr
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.2T>C
  hgvsp: ENSP00000466748.2:p.Met1?
  variant of: http://identifiers.org/hgnc/12392
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20666
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-40149262-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149262
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149262
    reference: chr 17
allele count: 1
allele frequency: 9.419033983874614e-6
allele num: 106168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*246-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.167-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-2-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-2-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-2-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-2-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.167-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-2-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.128-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-2-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.167-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-2-5T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-2-5T>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.167-5T>G
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-40149272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149272
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149272
    reference: chr 17
allele count: 3
allele frequency: 2.919480721695635e-5
allele num: 102758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-2-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-2-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.167-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*246-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-2-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-2-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-2-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-2-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.167-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-2-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-2-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.128-15C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.167-15C>T
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-40149278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149278
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149278
    reference: chr 17
allele count: 1
allele frequency: 9.903539525026245e-6
allele num: 100974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-2-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.167-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-2-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.167-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-2-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-2-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-2-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-2-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-2-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*246-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.167-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-2-21G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.128-21G>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-40149279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149279
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149279
    reference: chr 17
allele count: 8
allele frequency: 8.000480028801728e-5
allele num: 99994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*246-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-2-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-2-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-2-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-2-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.167-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.128-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-2-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.167-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-2-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-2-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-2-22C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.167-22C>T
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

17-40149285-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149285
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149285
    reference: chr 17
allele count: 1
allele frequency: 1.011777085272573e-5
allele num: 98836
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.167-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-2-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.167-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-2-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-2-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-2-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.167-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-2-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-2-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-2-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.128-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*246-28G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-2-28G>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-40149289-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149289
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149289
    reference: chr 17
allele count: 1
allele frequency: 1.035840066293764e-5
allele num: 96540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.167-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-2-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.167-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-2-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-2-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-2-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.167-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-2-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-2-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-2-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*246-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.128-32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-2-32C>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

17-40149294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149294
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149294
    reference: chr 17
allele count: 6
allele frequency: 6.338340622425049e-5
allele num: 94662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*246-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-2-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.167-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.128-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-2-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-2-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-2-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-2-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-2-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.167-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.167-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-2-37C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-2-37C>T
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21746
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-40149297-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149297
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149297
    reference: chr 17
allele count: 8
allele frequency: 8.715736261820717e-5
allele num: 91788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-2-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-2-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.167-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-2-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.167-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-2-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-2-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-2-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-2-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.128-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.167-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*246-40G>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-2-40G>C
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20688
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-40149297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149297
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149297
    reference: chr 17
allele count: 1
allele frequency: 1.08946703272759e-5
allele num: 91788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-2-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.128-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-2-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*246-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-2-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.167-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-2-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.167-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-2-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-2-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-2-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.167-40G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-2-40G>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-40149303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40149303
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40149303
    reference: chr 17
allele count: 1
allele frequency: 1.13299041490109e-5
allele num: 88262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*246-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-2-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-2-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-2-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-2-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-2-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.128-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-2-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.167-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-2-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.167-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.167-46G>A
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-2-46G>A
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/17-40152451-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40152451
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40152451
    reference: chr 17
allele count: 2
allele frequency: 1.697130152911427e-5
allele num: 117846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.166+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-3+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.166+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-3+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.127+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*245+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-3+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.166+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-3194T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-3+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-3+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-3+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-3+49T>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-3+49T>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-40152451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40152451
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40152451
    reference: chr 17
allele count: 341
allele frequency: 2.893606910713982e-3
allele num: 117846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-3+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-3+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-3+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.166+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.166+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-3+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.127+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-3194T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-3+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.166+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-3+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-3+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*245+49T>C
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-3+49T>C
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 3.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 5
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-40152452-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40152452
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40152452
    reference: chr 17
allele count: 1
allele frequency: 8.475007203756124e-6
allele num: 117994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-3+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-3+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-3+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-3+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*245+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-3+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.166+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-3+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.166+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-3+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-3+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.166+48A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-3195A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.127+48A>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-40152462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40152462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40152462
    reference: chr 17
allele count: 1
allele frequency: 8.451513666097598e-6
allele num: 118322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-3+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-3+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-3+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-3+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.166+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-3+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.166+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-3+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-3+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.166+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.127+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-3205C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-3+38C>T
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*245+38C>T
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-40152463-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40152463
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40152463
    reference: chr 17
allele count: 3
allele frequency: 2.534597252496578e-5
allele num: 118362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*245+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-3+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.127+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.166+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-3+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-3+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-3+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.166+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-3+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.166+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-3206A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-3+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-3+37A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-3+37A>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-40152468-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40152468
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40152468
    reference: chr 17
allele count: 1
allele frequency: 8.43540169382866e-6
allele num: 118548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-3+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-3+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-3+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-3+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*245+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.127+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.166+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-3+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.166+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-3211C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.166+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-3+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-3+32C>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-3+32C>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-40152470-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40152470
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40152470
    reference: chr 17
allele count: 1
allele frequency: 8.419067504083248e-6
allele num: 118778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-3213A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-3+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-3+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*245+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-3+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.166+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.166+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-3+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.127+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.166+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-3+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-3+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-3+30A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-3+30A>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

17-40152471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40152471
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40152471
    reference: chr 17
allele count: 3
allele frequency: 2.52657110613283e-5
allele num: 118738
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000406463
  ensembl transcript: ENST00000457167
  gene symbol: DNAJC7
  hgvsc: ENST00000457167.4:c.166+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468102
  ensembl transcript: ENST00000589576
  gene symbol: DNAJC7
  hgvsc: ENST00000589576.1:c.-3+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000394327
  ensembl transcript: ENST00000426588
  gene symbol: DNAJC7
  hgvsc: ENST00000426588.3:c.-3+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465399
  ensembl transcript: ENST00000590886
  gene symbol: DNAJC7
  hgvsc: ENST00000590886.1:c.-3+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000464756
  ensembl transcript: ENST00000590348
  gene symbol: DNAJC7
  hgvsc: ENST00000590348.1:c.127+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466748
  ensembl transcript: ENST00000589586
  gene symbol: DNAJC7
  hgvsc: ENST00000589586.2:c.-3+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000313311
  ensembl transcript: ENST00000316603
  gene symbol: DNAJC7
  hgvsc: ENST00000316603.7:c.-2-3214A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000468805
  ensembl transcript: ENST00000588641
  gene symbol: DNAJC7
  hgvsc: ENST00000588641.1:c.166+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466114
  ensembl transcript: ENST00000588814
  gene symbol: DNAJC7
  hgvsc: ENST00000588814.1:c.166+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465228
  ensembl transcript: ENST00000589773
  gene symbol: DNAJC7
  hgvsc: ENST00000589773.1:c.-3+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465340
  ensembl transcript: ENST00000590774
  gene symbol: DNAJC7
  hgvsc: ENST00000590774.1:c.-3+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000466877
  ensembl transcript: ENST00000585866
  gene symbol: DNAJC7
  hgvsc: ENST00000585866.1:c.*245+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000465140
  ensembl transcript: ENST00000591787
  gene symbol: DNAJC7
  hgvsc: ENST00000591787.1:c.-3+29A>G
  variant of: http://identifiers.org/hgnc/12392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168259
  ensembl protein: ENSP00000467477
  ensembl transcript: ENST00000589810
  gene symbol: DNAJC7
  hgvsc: ENST00000589810.1:c.-3+29A>G
  variant of: http://identifiers.org/hgnc/12392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-40152477-C-T
type: Variant
allele count: 1
allele frequency: 8.399973120086016e-6
allele num: 119048
alternate allele: T
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 275
bin: 5.75e1
variant carriers: 6

GenotypeDepth
all individuals: 128
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 147
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5346
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 9.75e1
variant carriers: 79

GenotypeQuality
all individuals: 1157
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.029385034837928e-4
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 79
allele frequency: 1.187541338464314e-3
allele num: 66524
num of homozygotes: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.55376e6

QD
type: SiteQuality
SIO_000300: 1.376e1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

GenotypeDepth
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 124
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5416
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48472
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497211728728189e-5
allele num: 66708
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.339e-1

QD
type: SiteQuality
SIO_000300: 7.83e0

FS
type: SiteQuality
SIO_000300: 5.976e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66728
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European (Finnish)
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South Asian
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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Latino
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allele frequency: 8.661008141347653e-5
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African
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Other
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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VQSLOD
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QD
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FS
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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European (Non-Finnish)
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Other
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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African
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Other
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DP
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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DP
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QD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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FS
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DP
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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Other
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 65434
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Latino
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South Asian
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East Asian
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African
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Other
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European (Finnish)
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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African
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South Asian
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VQSLOD
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QD
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DP
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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FS
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VQSLOD
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MQ
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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Latino
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South Asian
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European (Finnish)
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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Other
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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QD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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South Asian
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African
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 63124
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European (Finnish)
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South Asian
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East Asian
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Latino
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FS
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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South Asian
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Other
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Latino
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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African
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South Asian
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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African
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South Asian
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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DP
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BaseQRankSum
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SIO_000300: -1.336e0

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

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.028e0

ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -4.289e0

MQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

DP
type: SiteQuality
SIO_000300: 1.793961e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.503226387346559e-5
allele num: 66638
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
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SIO_000300: 5.954e1

InbreedingCoeff
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SIO_000300: 3.0e-3

FS
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SIO_000300: 1.3751e1

QD
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SIO_000300: 1.219e1

BaseQRankSum
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SIO_000300: -2.222e0

VQSLOD
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SIO_000300: -9.281e-1

ClippingRankSum
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SIO_000300: -1.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

DP
type: SiteQuality
SIO_000300: 1.794338e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 538
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66690
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: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.15e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.344e0

FS
type: SiteQuality
SIO_000300: 5.76e0

ReadPosRankSum
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SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.798922e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

QD
type: SiteQuality
SIO_000300: 2.559e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 3.24e0

VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 4.6e-3

DP
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SIO_000300: 1.79874e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

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

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

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

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

Other
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South Asian
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East Asian
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African
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BaseQRankSum
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QD
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VQSLOD
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FS
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MQ
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SIO_000300: 6.0e1

MQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

Latino
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allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66698
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

East Asian
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allele num: 8624
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Other
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 1.798397e6

VQSLOD
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MQRankSum
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MQ
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SIO_000300: 5.932e1

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
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SIO_000300: 3.18e-1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.030945958233565e-5
allele num: 65986
num of homozygotes: 0

MQ
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FS
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.191895113230036e-4
allele num: 8390
num of homozygotes: 0

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

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

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

ReadPosRankSum
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SIO_000300: -1.377e0

InbreedingCoeff
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MQ
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DP
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.16e0

FS
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

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

Other
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Latino
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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SIO_000300: 1.687148e6

VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 15464
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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Other
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African
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Latino
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East Asian
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FS
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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DP
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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allele frequency: 1.642090052218464e-5
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Latino
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 8.234247883798294e-5
allele num: 60722
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Other
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.748549061951681e-5
allele num: 14818
num of homozygotes: 0

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

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

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

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

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

MQRankSum
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SIO_000300: 1.9e-1

VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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SIO_000300: -4.247e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14484
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 5.26002033874531e-5
allele num: 57034
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Other
type: Population
allele count: 0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 8362
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Other
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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FS
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DP
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MQ
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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East Asian
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African
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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DP
type: SiteQuality
SIO_000300: 1.195768e6

FS
type: SiteQuality
SIO_000300: 2.702e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 828
bin: 7.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.226993865030675e-4
allele num: 8150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13808
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53634
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 1.93e0

VQSLOD
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MQ
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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SIO_000300: -6.3e-3

MQRankSum
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SIO_000300: 1.79e0

ReadPosRankSum
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SIO_000300: 9.05e-1

DP
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SIO_000300: 1.155269e6

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13610
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.249687578105474e-4
allele num: 8002
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 9.506064869386669e-5
allele num: 52598
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.355e0

VQSLOD
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SIO_000300: 1.31e0

ClippingRankSum
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SIO_000300: 3.61e-1

ReadPosRankSum
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MQRankSum
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SIO_000300: -8.100000000000001e-1

FS
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.067e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

DP
type: SiteQuality
SIO_000300: 1.12969e6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51000
num of homozygotes: 0

East Asian
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allele count: 6
allele frequency: 9.618467457518436e-4
allele num: 6238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13332
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.718129926610492e-4
allele num: 7358
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

QD
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MQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 7.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

DP
type: SiteQuality
SIO_000300: 1.106268e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.96078431372549e-5
allele num: 51000
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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BaseQRankSum
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SIO_000300: -4.21e-1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.036576921510325e-5
allele num: 49102
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.53031555106663e-5
allele num: 65346
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

Other
type: Population
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East Asian
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FS
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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GenotypeDepth
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variant carriers: 20

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 336

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 11
allele frequency: 9.596928982725527e-4
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.423432682425488e-5
allele num: 15568
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.309468822170901e-3
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

African
type: Population
allele count: 316
allele frequency: 3.265812319140141e-2
allele num: 9676
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.683347106173293e-4
allele num: 65346
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 2.274533e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.38e-2

QD
type: SiteQuality
SIO_000300: 1.531e1

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1738
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GenotypeQuality
all individuals: 2126
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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: 1
allele frequency: 1.528911720637251e-5
allele num: 65406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.275627e6

MQ
type: SiteQuality
SIO_000300: 5.995e1

ClippingRankSum
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SIO_000300: 2.04e0

FS
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MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.97e0

BaseQRankSum
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SIO_000300: 1.52e0

QD
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SIO_000300: 2.63e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.075e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 2138
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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: 1
allele frequency: 6.353240152477763e-5
allele num: 15740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65560
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 2.302652e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.171e0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.39e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeDepth
all individuals: 205
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3984
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variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.031140441328109e-4
allele num: 9698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.049431281066081e-5
allele num: 65586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.586e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 8.663e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

DP
type: SiteQuality
SIO_000300: 2.305754e6

GenotypeDepth
all individuals: 3314
bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 5541
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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
all individuals: 715
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 326
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522394421946838e-5
allele num: 65686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

VQSLOD
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QD
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SIO_000300: 1.043e1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -5.34e-1

BaseQRankSum
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SIO_000300: -1.495e0

DP
type: SiteQuality
SIO_000300: 2.317462e6

GenotypeDepth
all individuals: 86
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65784
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.189343482397717e-4
allele num: 8408
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
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SIO_000300: 1.964e1

FS
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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SIO_000300: 2.65e-1

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.004e1

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.561350159647255e-5
allele num: 65770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
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
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.323266e6

QD
type: SiteQuality
SIO_000300: 1.649e1

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1