12-63974457-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974457
    reference: chr 12
allele count: 1
allele frequency: 8.328475056217207e-6
allele num: 120070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.226T>C
  hgvsp: ENSP00000439794.1:p.Tyr76His
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1885T>C
  hgvsp: ENSP00000315988.4:p.Tyr629His
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1729T>C
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr629His
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

12-63974457-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974456
    reference: chr 12
allele count: 1
allele frequency: 8.328475056217207e-6
allele num: 120070
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1884delA
  hgvsp: ENSP00000315988.4:p.Lys628AsnfsTer29
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1728delA
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.225delA
  hgvsp: ENSP00000439794.1:p.Lys75AsnfsTer29
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys628AsnfsTer29
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: AT
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-63974461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974461
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974461
    reference: chr 12
allele count: 4
allele frequency: 3.327454829800686e-5
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.222C>T
  hgvsp: ENST00000413230.2:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1725C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1881C>T
  hgvsp: ENST00000324472.4:c.1881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile627Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

12-63974473-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974473
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974473
    reference: chr 12
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1869T>C
  hgvsp: ENST00000324472.4:c.1869T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1713T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.210T>C
  hgvsp: ENST00000413230.2:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu623Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-63974488-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974488
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974488
    reference: chr 12
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.195G>T
  hgvsp: ENSP00000439794.1:p.Leu65Phe
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1854G>T
  hgvsp: ENSP00000315988.4:p.Leu618Phe
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1698G>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu618Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-63974488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974488
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974488
    reference: chr 12
allele count: 2
allele frequency: 1.653548515113433e-5
allele num: 120952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1698G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1854G>A
  hgvsp: ENST00000324472.4:c.1854G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.195G>A
  hgvsp: ENST00000413230.2:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu618Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-63974501-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974501
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974498
    reference: chr 12
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1838_1840delGAG
  hgvsp: ENSP00000315988.4:p.Gly613del
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.179_181delGAG
  hgvsp: ENSP00000439794.1:p.Gly60del
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1682_*186+1684delGAG
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly613del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: TCTC
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-63974504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974504
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974504
    reference: chr 12
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.179G>A
  hgvsp: ENSP00000439794.1:p.Gly60Glu
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1838G>A
  hgvsp: ENSP00000315988.4:p.Gly613Glu
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1682G>A
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8592
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly613Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-63974508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974508
    reference: chr 12
allele count: 7
allele frequency: 5.780060442917774e-5
allele num: 121106
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1834A>G
  hgvsp: ENSP00000315988.4:p.Ile612Val
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.175A>G
  hgvsp: ENSP00000439794.1:p.Ile59Val
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1678A>G
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile612Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

12-63974511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974511
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974511
    reference: chr 12
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1831A>G
  hgvsp: ENSP00000315988.4:p.Ile611Val
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1675A>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.172A>G
  hgvsp: ENSP00000439794.1:p.Ile58Val
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 29110
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile611Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-63974521-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974521
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974521
    reference: chr 12
allele count: 3
allele frequency: 2.476677949310658e-5
allele num: 121130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.162T>C
  hgvsp: ENST00000413230.2:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1665T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1821T>C
  hgvsp: ENST00000324472.4:c.1821T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn607Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-63974525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974525
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974525
    reference: chr 12
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1661G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1817G>A
  hgvsp: ENSP00000315988.4:p.Arg606His
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.158G>A
  hgvsp: ENSP00000439794.1:p.Arg53His
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg606His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-63974526-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974526
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974526
    reference: chr 12
allele count: 3
allele frequency: 2.476555276713776e-5
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.157C>T
  hgvsp: ENSP00000439794.1:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1660C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1816C>T
  hgvsp: ENSP00000315988.4:p.Arg606Cys
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg606Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

12-63974529-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974529
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974529
    reference: chr 12
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1813C>G
  hgvsp: ENSP00000315988.4:p.Leu605Val
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1657C>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.154C>G
  hgvsp: ENSP00000439794.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu605Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-63974539-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974539
    reference: chr 12
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1647T>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.144T>G
  hgvsp: ENST00000413230.2:c.144T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1803T>G
  hgvsp: ENST00000324472.4:c.1803T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly601Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-63974539-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974539
    reference: chr 12
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1647T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1803T>C
  hgvsp: ENST00000324472.4:c.1803T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.144T>C
  hgvsp: ENST00000413230.2:c.144T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42576
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly601Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-63974542-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974542
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974542
    reference: chr 12
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.141A>G
  hgvsp: ENST00000413230.2:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1800A>G
  hgvsp: ENST00000324472.4:c.1800A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1644A>G
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln600Gln
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-63974544-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974544
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974544
    reference: chr 12
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1642C>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1798C>A
  hgvsp: ENSP00000315988.4:p.Gln600Lys
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.139C>A
  hgvsp: ENSP00000439794.1:p.Gln47Lys
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln600Lys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-63974545-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974545
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974545
    reference: chr 12
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.138A>G
  hgvsp: ENSP00000439794.1:p.Ile46Met
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1797A>G
  hgvsp: ENSP00000315988.4:p.Ile599Met
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1641A>G
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile599Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum

12-63974546-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974546
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974546
    reference: chr 12
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1796T>C
  hgvsp: ENSP00000315988.4:p.Ile599Thr
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1640T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.137T>C
  hgvsp: ENSP00000439794.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile599Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-63974547-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974547
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974547
    reference: chr 12
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1639A>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.136A>C
  hgvsp: ENSP00000439794.1:p.Ile46Leu
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1795A>C
  hgvsp: ENSP00000315988.4:p.Ile599Leu
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile599Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-63974557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974557
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974557
    reference: chr 12
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1785A>G
  hgvsp: ENST00000324472.4:c.1785A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.126A>G
  hgvsp: ENST00000413230.2:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1629A>G
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42677
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr595Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-63974558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974558
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974558
    reference: chr 12
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1784C>T
  hgvsp: ENSP00000315988.4:p.Thr595Ile
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1628C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.125C>T
  hgvsp: ENSP00000439794.1:p.Thr42Ile
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr595Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-63974559-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974559
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974559
    reference: chr 12
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1627A>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1783A>G
  hgvsp: ENSP00000315988.4:p.Thr595Ala
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.124A>G
  hgvsp: ENSP00000439794.1:p.Thr42Ala
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42678
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr595Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-63974562-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974562
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974562
    reference: chr 12
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1624T>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1780T>G
  hgvsp: ENSP00000315988.4:p.Leu594Val
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.121T>G
  hgvsp: ENSP00000439794.1:p.Leu41Val
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu594Val
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-63974565-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974565
    reference: chr 12
allele count: 5
allele frequency: 4.127932896322837e-5
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1621A>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1777A>G
  hgvsp: ENSP00000315988.4:p.Ile593Val
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.118A>G
  hgvsp: ENSP00000439794.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile593Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS

12-63974573-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974573
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974573
    reference: chr 12
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1613T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1769T>C
  hgvsp: ENSP00000315988.4:p.Ile590Thr
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.110T>C
  hgvsp: ENSP00000439794.1:p.Ile37Thr
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile590Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-63974574-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974574
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974574
    reference: chr 12
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1768A>G
  hgvsp: ENSP00000315988.4:p.Ile590Val
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.109A>G
  hgvsp: ENSP00000439794.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1612A>G
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 8545
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile590Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

12-63974581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974581
    reference: chr 12
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1761G>A
  hgvsp: ENST00000324472.4:c.1761G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1605G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.102G>A
  hgvsp: ENST00000413230.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu587Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

12-63974582-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974582
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974582
    reference: chr 12
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1760A>C
  hgvsp: ENSP00000315988.4:p.Glu587Ala
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.101A>C
  hgvsp: ENSP00000439794.1:p.Glu34Ala
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1604A>C
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu587Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-63974583-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974583
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974583
    reference: chr 12
allele count: 2
allele frequency: 1.654533421575116e-5
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1759G>T
  hgvsp: ENSP00000315988.4:p.Glu587Ter
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1603G>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.100G>T
  hgvsp: ENSP00000439794.1:p.Glu34Ter
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
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genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu587Ter
num of homozygotes: 1
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

12-63974588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974588
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974588
    reference: chr 12
allele count: 21
allele frequency: 1.741004808489471e-4
allele num: 120620
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1754G>A
  hgvsp: ENSP00000315988.4:p.Arg585His
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.95G>A
  hgvsp: ENSP00000439794.1:p.Arg32His
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1598G>A
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10175
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29073
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 41887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8445
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genotype quality: GenotypeQuality
  all individuals: 385
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 166
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 1866
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 543
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 9.75e1
  variant carriers: 20
hgvs: p.Arg585His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-63974589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974589
    reference: chr 12
allele count: 3
allele frequency: 2.487067250298448e-5
allele num: 120624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1597C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.94C>T
  hgvsp: ENSP00000439794.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1753C>T
  hgvsp: ENSP00000315988.4:p.Arg585Cys
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8454
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg585Cys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-63974589-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974589
    reference: chr 12
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1597C>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1753C>A
  hgvsp: ENSP00000315988.4:p.Arg585Ser
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.94C>A
  hgvsp: ENSP00000439794.1:p.Arg32Ser
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg585Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

12-63974591-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974591
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974591
    reference: chr 12
allele count: 2
allele frequency: 1.658457303016734e-5
allele num: 120594
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1751T>C
  hgvsp: ENSP00000315988.4:p.Val584Ala
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1595T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.92T>C
  hgvsp: ENSP00000439794.1:p.Val31Ala
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val584Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-63974595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974595
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974595
    reference: chr 12
allele count: 2
allele frequency: 1.660191918185742e-5
allele num: 120468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.88A>G
  hgvsp: ENSP00000439794.1:p.Arg30Gly
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1591A>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1747A>G
  hgvsp: ENSP00000315988.4:p.Arg583Gly
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg583Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-63974596-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974596
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974596
    reference: chr 12
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1746C>T
  hgvsp: ENST00000324472.4:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1590C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.87C>T
  hgvsp: ENST00000413230.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8436
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg582Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

12-63974597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974597
    reference: chr 12
allele count: 2
allele frequency: 1.661571181709424e-5
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1589G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1745G>A
  hgvsp: ENSP00000315988.4:p.Arg582His
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.86G>A
  hgvsp: ENSP00000439794.1:p.Arg29His
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg582His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

12-63974598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974598
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974598
    reference: chr 12
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1588C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1744C>T
  hgvsp: ENSP00000315988.4:p.Arg582Cys
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.85C>T
  hgvsp: ENSP00000439794.1:p.Arg29Cys
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg582Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-63974600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974600
    reference: chr 12
allele count: 1
allele frequency: 8.320713584396998e-6
allele num: 120182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1586T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1742T>C
  hgvsp: ENSP00000315988.4:p.Phe581Ser
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.83T>C
  hgvsp: ENSP00000439794.1:p.Phe28Ser
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 41755
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe581Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-63974623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974623
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974623
    reference: chr 12
allele count: 9
allele frequency: 7.737276478679505e-5
allele num: 116320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-7G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-7G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1563G>A
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25865
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1726-7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-63974623-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974623
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974622
    reference: chr 12
allele count: 1
allele frequency: 8.59697386519945e-6
allele num: 116320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1562delC
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-8delC
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-8delC
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1726-8delC
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CG
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

12-63974624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974624
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974624
    reference: chr 12
allele count: 1
allele frequency: 8.600818797949565e-6
allele num: 116268
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-8C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-8C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1562C>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25884
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1726-8C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-63974634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974634
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974634
    reference: chr 12
allele count: 3
allele frequency: 2.62022464059252e-5
allele num: 114494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1552C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-18C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-18C>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 284
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6336
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

12-63974643-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974643
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974643
    reference: chr 12
allele count: 9
allele frequency: 7.982969664715274e-5
allele num: 112740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-27A>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1543A>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-27A>G
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-63974649-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974649
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974649
    reference: chr 12
allele count: 1
allele frequency: 8.941984405179198e-6
allele num: 111832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-33A>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1537A>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-33A>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-63974662-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974662
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 107064
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-46T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-46T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1524T>C
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8040
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

12-63974664-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974664
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974664
    reference: chr 12
allele count: 249
allele frequency: 2.367595321859846e-3
allele num: 105170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1522G>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-48G>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-48G>C
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 2.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 1.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 2.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15319
  bin: 1.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 9.75e1
  variant carriers: 237
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9050
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 4
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-63974664-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974664
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974664
    reference: chr 12
allele count: 5
allele frequency: 4.754207473614148e-5
allele num: 105170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1522G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-48G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-48G>A
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15319
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-63974665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974665
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974665
    reference: chr 12
allele count: 4
allele frequency: 3.823653118189118e-5
allele num: 104612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-49C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1521C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-49C>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15218
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14493
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5033
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5624
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-63974665-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63974665
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63974665
    reference: chr 12
allele count: 1
allele frequency: 9.559132795472795e-6
allele num: 104612
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1726-49C>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.67-49C>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1521C>A
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5033
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

12-63976140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976140
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976140
    reference: chr 12
allele count: 1
allele frequency: 8.458948721852847e-6
allele num: 118218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.66+46G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1725+46G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+46G>A
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16470
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5232
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

12-63976147-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976147
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976147
    reference: chr 12
allele count: 1
allele frequency: 8.44095551616443e-6
allele num: 118470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+39T>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1725+39T>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.66+39T>A
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3314
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genotype quality: GenotypeQuality
  all individuals: 1177
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2480
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33982
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

12-63976154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976154
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976154
    reference: chr 12
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1725+32T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+32T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.66+32T>C
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-63976162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976162
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976162
    reference: chr 12
allele count: 1
allele frequency: 8.403361344537815e-6
allele num: 119000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+24C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.66+24C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1725+24C>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

12-63976168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976168
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976168
    reference: chr 12
allele count: 1
allele frequency: 8.373666493610892e-6
allele num: 119422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.66+18G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+18G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1725+18G>A
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-63976179-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976179
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976179
    reference: chr 12
allele count: 4
allele frequency: 3.327178053933557e-5
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+7G>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1725+7G>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.66+7G>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19721
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46738
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 314
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1725+7G>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-63976185-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976185
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976185
    reference: chr 12
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.66+1G>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1725+1G>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*186+1G>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1725+1G>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-63976189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976189
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976189
    reference: chr 12
allele count: 4
allele frequency: 3.315484972564362e-5
allele num: 120646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*183A>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.63A>G
  hgvsp: ENST00000413230.2:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1722A>G
  hgvsp: ENST00000324472.4:c.1722A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg574Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

12-63976205-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976205
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976205
    reference: chr 12
allele count: 45
allele frequency: 3.779226014512228e-4
allele num: 119072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.47C>T
  hgvsp: ENSP00000439794.1:p.Ser16Phe
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1706C>T
  hgvsp: ENSP00000315988.4:p.Ser569Phe
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*167C>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 47413
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5546
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.75e1
  variant carriers: 2
hgvs: p.Ser569Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

12-63976215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976215
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976215
    reference: chr 12
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*157G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.37G>A
  hgvsp: ENSP00000439794.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1696G>A
  hgvsp: ENSP00000315988.4:p.Val566Ile
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val566Ile
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-63976215-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976215
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976215
    reference: chr 12
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.37G>C
  hgvsp: ENSP00000439794.1:p.Val13Leu
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1696G>C
  hgvsp: ENSP00000315988.4:p.Val566Leu
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*157G>C
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val566Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-63976223-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976223
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976223
    reference: chr 12
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1688A>C
  hgvsp: ENSP00000315988.4:p.His563Pro
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*149A>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.29A>C
  hgvsp: ENSP00000439794.1:p.His10Pro
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His563Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

12-63976225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976225
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976225
    reference: chr 12
allele count: 4
allele frequency: 3.302455375571737e-5
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*147G>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.27G>A
  hgvsp: ENST00000413230.2:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1686G>A
  hgvsp: ENST00000324472.4:c.1686G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro562Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

12-63976226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976226
    reference: chr 12
allele count: 8
allele frequency: 6.604583581005217e-5
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.26C>T
  hgvsp: ENSP00000439794.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1685C>T
  hgvsp: ENSP00000315988.4:p.Pro562Leu
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*146C>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26937
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5902
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro562Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-63976244-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976244
    reference: chr 12
allele count: 5
allele frequency: 4.128614602084125e-5
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.8T>A
  hgvsp: ENSP00000439794.1:p.Leu3Gln
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1667T>A
  hgvsp: ENSP00000315988.4:p.Leu556Gln
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*128T>A
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu556Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-63976251-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976251
    reference: chr 12
allele count: 6
allele frequency: 4.955155839651157e-5
allele num: 121086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.1A>G
  hgvsp: ENSP00000439794.1:p.Met1?
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1660A>G
  hgvsp: ENSP00000315988.4:p.Met554Val
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*121A>G
  variant of: http://identifiers.org/hgnc/19414
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

12-63976252-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976252
    reference: chr 12
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.-1T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*120T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1659T>C
  hgvsp: ENST00000324472.4:c.1659T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile553Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

12-63976255-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976255
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976255
    reference: chr 12
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*117A>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1656A>C
  hgvsp: ENSP00000315988.4:p.Leu552Phe
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.-4A>C
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu552Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-63976271-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976271
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976271
    reference: chr 12
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1640C>A
  hgvsp: ENSP00000315988.4:p.Thr547Asn
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.-20C>A
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*101C>A
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr547Asn
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

12-63976277-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976277
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976277
    reference: chr 12
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.-26T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*95T>C
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1634T>C
  hgvsp: ENSP00000315988.4:p.Val545Ala
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val545Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

12-63976295-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976295
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976295
    reference: chr 12
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.-44A>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*77A>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1616A>T
  hgvsp: ENSP00000315988.4:p.His539Leu
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
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genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His539Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-63976301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976301
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976301
    reference: chr 12
allele count: 2
allele frequency: 1.668919708272835e-5
allele num: 119838
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1610C>T
  hgvsp: ENSP00000315988.4:p.Ala537Val
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.-50C>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*71C>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala537Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-63976307-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976307
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976307
    reference: chr 12
allele count: 1
allele frequency: 8.393204861344255e-6
allele num: 119144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1606-2A>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*67-2A>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.-54-2A>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1606-2A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

12-63976309-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976309
    reference: chr 12
allele count: 4
allele frequency: 3.367853835143555e-5
allele num: 118770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*67-4A>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1606-4A>T
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.-54-4A>T
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45616
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1606-4A>T
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-63976309-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63976309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 63976309
    reference: chr 12
allele count: 2
allele frequency: 1.683926917571777e-5
allele num: 118770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000439794
  ensembl transcript: ENST00000413230
  gene symbol: DPY19L2
  hgvsc: ENST00000413230.2:c.-54-4A>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000315988
  ensembl transcript: ENST00000324472
  gene symbol: DPY19L2
  hgvsc: ENST00000324472.4:c.1606-4A>G
  variant of: http://identifiers.org/hgnc/19414
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177990
  ensembl protein: ENSP00000437474
  ensembl transcript: ENST00000439061
  gene symbol: DPY19L2
  hgvsc: ENST00000439061.2:c.*67-4A>G
  variant of: http://identifiers.org/hgnc/19414
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1606-4A>G
num of homozygotes: 0
population: European (Finnish)
reference allele: T

GenotypeQuality
all individuals: 41462
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15746
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: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.770507e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 4.582e1

FS
type: SiteQuality
SIO_000300: 5.973e0

QD
type: SiteQuality
SIO_000300: 1.151e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 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: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

FS
type: SiteQuality
SIO_000300: 5.973e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 4.582e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

DP
type: SiteQuality
SIO_000300: 1.770507e6

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 3515
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.022463789936463e-5
allele num: 66418
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.765e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.431e0

DP
type: SiteQuality
SIO_000300: 1.772225e6

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 1.144e0

MQ
type: SiteQuality
SIO_000300: 4.455e1

QD
type: SiteQuality
SIO_000300: 1.4e1

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.952e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 1.132e0

MQ
type: SiteQuality
SIO_000300: 4.429e1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.777789e6

GenotypeQuality
all individuals: 552
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.201e0

FS
type: SiteQuality
SIO_000300: 1.112e0

QD
type: SiteQuality
SIO_000300: 9.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.578e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.782197e6

MQ
type: SiteQuality
SIO_000300: 4.3e1

GenotypeQuality
all individuals: 42196
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.3e1

QD
type: SiteQuality
SIO_000300: 9.58e0

VQSLOD
type: SiteQuality
SIO_000300: -2.201e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.578e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 1.782197e6

GenotypeQuality
all individuals: 1866
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.373e0

FS
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

QD
type: SiteQuality
SIO_000300: 1.94e1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQ
type: SiteQuality
SIO_000300: 4.318e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.783137e6

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.050703971661013e-4
allele num: 66622
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Latino
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Other
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East Asian
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African
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European (Finnish)
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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MQ
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VQSLOD
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QD
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MQRankSum
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DP
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 3

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
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South Asian
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African
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Other
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Latino
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East Asian
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BaseQRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

GenotypeQuality
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variant carriers: 0

South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.5008254539997e-5
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African
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Other
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East Asian
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ClippingRankSum
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QD
type: SiteQuality
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.500780405811022e-5
allele num: 66632
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.158211721102618e-4
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Latino
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allele num: 11534
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South Asian
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Other
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Other
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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African
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Other
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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FS
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MQ
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BaseQRankSum
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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African
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Other
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European (Finnish)
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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East Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.968e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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DP
type: SiteQuality
SIO_000300: 1.784418e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

Latino
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allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

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

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

VQSLOD
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MQ
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.831e0

QD
type: SiteQuality
SIO_000300: 1.07e1

DP
type: SiteQuality
SIO_000300: 1.784399e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.308e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

African
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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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num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.784346e6

ClippingRankSum
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.551e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 5.338e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.303e0

MQ
type: SiteQuality
SIO_000300: 5.626e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.2965e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.784208e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
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allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.004924037710923e-5
allele num: 66612
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.784189e6

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.208e1

FS
type: SiteQuality
SIO_000300: 4.319e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.735e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.782878e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

East Asian
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
allele num: 16472
num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.841e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.972e-1

DP
type: SiteQuality
SIO_000300: 1.782642e6

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66506
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8608
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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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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Latino
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allele frequency: 1.738828029907842e-4
allele num: 11502
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Other
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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num of homozygotes: 0

Latino
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allele frequency: 1.740947075208914e-3
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South Asian
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Other
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allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele frequency: 1.507522537461935e-5
allele num: 66334
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

South Asian
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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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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele frequency: 4.522294913925654e-5
allele num: 66338
num of homozygotes: 0

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

East Asian
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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 frequency: 1.507431637975218e-5
allele num: 66338
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Other
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allele frequency: 0.0e0
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Latino
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South Asian
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European (Finnish)
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele num: 11488
num of homozygotes: 0

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

South Asian
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allele frequency: 7.883948281299275e-5
allele num: 12684
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European (Non-Finnish)
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allele frequency: 5.144915108900703e-5
allele num: 58310
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 824
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East Asian
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allele frequency: 1.368738023542294e-4
allele num: 7306
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

DP
type: SiteQuality
SIO_000300: 1.252865e6

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 9.46611132146914e-5
allele num: 10564
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.175626250776344e-5
allele num: 57964
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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Other
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele frequency: 0.0e0
allele num: 9074
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European (Non-Finnish)
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allele frequency: 1.725208750258781e-5
allele num: 57964
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East Asian
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.238e1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65208
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African
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Other
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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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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
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FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.981e1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65298
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Latino
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East Asian
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African
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Other
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South Asian
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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FS
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QD
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.387e1

GenotypeQuality
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variant carriers: 1

East Asian
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allele frequency: 0.0e0
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 1.529519730804527e-5
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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VQSLOD
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
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FS
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65574
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South Asian
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Other
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 9.875567845151097e-5
allele num: 10126
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European (Finnish)
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MQ
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.65326e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65790
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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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African
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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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Latino
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allele frequency: 8.761170492377782e-5
allele num: 11414
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Other
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 4.799e1

MQRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.047960325380265e-5
allele num: 66138
num of homozygotes: 0

Latino
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East Asian
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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VQSLOD
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DP
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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num of homozygotes: 0

European (Finnish)
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South Asian
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Latino
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Other
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East Asian
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European (Non-Finnish)
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num of homozygotes: 0

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

East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Latino
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Other
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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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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BaseQRankSum
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GenotypeQuality
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variant carriers: 9

South Asian
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East Asian
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Latino
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Other
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allele frequency: 2.293577981651376e-3
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European (Non-Finnish)
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allele frequency: 3.971769881763466e-4
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African
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allele frequency: 2.971473851030111e-4
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European (Finnish)
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allele frequency: 1.460090850097339e-3
allele num: 6164
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MQ
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QD
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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MQRankSum
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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European (Finnish)
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BaseQRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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East Asian
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South Asian
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African
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.501411326647048e-5
allele num: 66604
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Other
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Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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VQSLOD
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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African
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allele frequency: 2.885725278953444e-4
allele num: 10396
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Other
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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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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East Asian
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African
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European (Non-Finnish)
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allele frequency: 7.507732964953903e-5
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Other
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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variant carriers: 0

African
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Latino
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allele frequency: 1.737921445950643e-4
allele num: 11508
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European (Non-Finnish)
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allele frequency: 3.003724618526973e-5
allele num: 66584
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Other
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East Asian
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European (Finnish)
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South Asian
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FS
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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variant carriers: 0

East Asian
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Latino
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Other
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South Asian
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allele frequency: 3.640776699029126e-4
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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QD
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VQSLOD
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GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 8618
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.531e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.194e0

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0