http://identifiers.org/exac.variant/2-175265669-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265669
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265669
    reference: chr 2
allele count: 1
allele frequency: 3.954757573360753e-5
allele num: 25286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.342-49A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.258-49A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.342-49A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.321-49A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+838A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+838A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.342-49A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.342-49A>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-175265671-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265671
    reference: chr 2
allele count: 46
allele frequency: 1.799687010954617e-3
allele num: 25560
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.342-47A>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.342-47A>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+840A>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+840A>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.342-47A>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.342-47A>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.321-47A>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.258-47A>T
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22755
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 19349
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 2.75e1
  variant carriers: 3
num of homozygotes: 2
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-175265671-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265670
    reference: chr 2
allele count: 156
allele frequency: 6.103286384976526e-3
allele num: 25560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+841delT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.342-46delT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.321-46delT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.342-46delT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.258-46delT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+841delT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.342-46delT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.342-46delT
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 1.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19349
  bin: 7.5e0
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 22755
  bin: 2.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 15272
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 4177
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10886
  bin: 2.25e1
  variant carriers: 9
num of homozygotes: 2
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: AT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

2-175265677-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265677
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265678
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 26102
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.342-38dupA
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.342-38dupA
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.321-38dupA
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+849dupA
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.342-38dupA
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.342-38dupA
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+849dupA
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.258-38dupA
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21583
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-175265692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265692
    reference: chr 2
allele count: 1
allele frequency: 3.138534931893792e-5
allele num: 31862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+861A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.342-26A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.342-26A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.342-26A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+861A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.321-26A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.258-26A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.342-26A>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11002
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-175265693-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265693
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265692
    reference: chr 2
allele count: 3
allele frequency: 9.113554893978978e-5
allele num: 32918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.258-24delG
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.321-24delG
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+863delG
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.342-24delG
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.342-24delG
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.342-24delG
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.342-24delG
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+863delG
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: TG
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-175265699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265699
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265699
    reference: chr 2
allele count: 1
allele frequency: 2.44355390479914e-5
allele num: 40924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.258-19C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.342-19C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.342-19C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.342-19C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.321-19C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+868C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+868C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.342-19C>T
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

2-175265702-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265702
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265702
    reference: chr 2
allele count: 660
allele frequency: 1.426040361263558e-2
allele num: 46282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.342-16T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+871T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.342-16T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.321-16T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.258-16T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+871T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.342-16T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.342-16T>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 2.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 1.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 2.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 32183
  bin: 7.5e0
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 31296
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 6
num of homozygotes: 5
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-175265724-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265724
    reference: chr 2
allele count: 1
allele frequency: 1.02819305352773e-5
allele num: 97258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.348C>G
  hgvsp: ENST00000548031.1:c.348C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.327C>G
  hgvsp: ENST00000409673.3:c.327C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.348C>G
  hgvsp: ENST00000272732.6:c.348C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+893C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+893C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.348C>G
  hgvsp: ENST00000427038.1:c.348C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.264C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.348C>G
  hgvsp: ENST00000458563.1:c.348C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly116Gly
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-175265724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265724
    reference: chr 2
allele count: 4
allele frequency: 4.112772214110921e-5
allele num: 97258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+893C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.327C>T
  hgvsp: ENST00000409673.3:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.348C>T
  hgvsp: ENST00000272732.6:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.348C>T
  hgvsp: ENST00000427038.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+893C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.348C>T
  hgvsp: ENST00000548031.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.264C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.348C>T
  hgvsp: ENST00000458563.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40314
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly116Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-175265741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265741
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265741
    reference: chr 2
allele count: 1
allele frequency: 9.084962569954213e-6
allele num: 110072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+910C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+910C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.365C>T
  hgvsp: ENSP00000408376.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.365C>T
  hgvsp: ENSP00000272732.6:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.344C>T
  hgvsp: ENSP00000387142.3:p.Thr115Ile
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.365C>T
  hgvsp: ENSP00000396884.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.281C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.365C>T
  hgvsp: ENSP00000446727.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr122Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-175265741-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265741
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265741
    reference: chr 2
allele count: 1
allele frequency: 9.084962569954213e-6
allele num: 110072
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.365C>A
  hgvsp: ENSP00000272732.6:p.Thr122Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+910C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+910C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.281C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.365C>A
  hgvsp: ENSP00000446727.1:p.Thr122Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.365C>A
  hgvsp: ENSP00000396884.1:p.Thr122Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.344C>A
  hgvsp: ENSP00000387142.3:p.Thr115Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.365C>A
  hgvsp: ENSP00000408376.1:p.Thr122Lys
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr122Lys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-175265754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265754
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265754
    reference: chr 2
allele count: 1
allele frequency: 8.722350150024422e-6
allele num: 114648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.378C>T
  hgvsp: ENST00000458563.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+923C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.357C>T
  hgvsp: ENST00000409673.3:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.378C>T
  hgvsp: ENST00000272732.6:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+923C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.294C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.378C>T
  hgvsp: ENST00000548031.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.378C>T
  hgvsp: ENST00000427038.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala126Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-175265759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265759
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265759
    reference: chr 2
allele count: 1
allele frequency: 8.646330497336931e-6
allele num: 115656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.383A>G
  hgvsp: ENSP00000446727.1:p.Asn128Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.383A>G
  hgvsp: ENSP00000408376.1:p.Asn128Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+928A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.383A>G
  hgvsp: ENSP00000396884.1:p.Asn128Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.383A>G
  hgvsp: ENSP00000272732.6:p.Asn128Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.362A>G
  hgvsp: ENSP00000387142.3:p.Asn121Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+928A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.299A>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn128Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-175265764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265764
    reference: chr 2
allele count: 1
allele frequency: 8.587376556462001e-6
allele num: 116450
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.388A>G
  hgvsp: ENSP00000272732.6:p.Ile130Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.388A>G
  hgvsp: ENSP00000408376.1:p.Ile130Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.388A>G
  hgvsp: ENSP00000396884.1:p.Ile130Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.304A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+933A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.388A>G
  hgvsp: ENSP00000446727.1:p.Ile130Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.367A>G
  hgvsp: ENSP00000387142.3:p.Ile123Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+933A>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile130Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

2-175265769-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265769
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265769
    reference: chr 2
allele count: 1
allele frequency: 8.538251366120219e-6
allele num: 117120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.393T>C
  hgvsp: ENST00000427038.1:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+938T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.393T>C
  hgvsp: ENST00000458563.1:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.372T>C
  hgvsp: ENST00000409673.3:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.393T>C
  hgvsp: ENST00000272732.6:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.393T>C
  hgvsp: ENST00000548031.1:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+938T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.309T>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val131Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

2-175265779-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265779
    reference: chr 2
allele count: 1
allele frequency: 8.4742890071523e-6
allele num: 118004
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.403G>C
  hgvsp: ENSP00000272732.6:p.Glu135Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.319G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+948G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.403G>C
  hgvsp: ENSP00000446727.1:p.Glu135Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.403G>C
  hgvsp: ENSP00000408376.1:p.Glu135Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+948G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.382G>C
  hgvsp: ENSP00000387142.3:p.Glu128Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.403G>C
  hgvsp: ENSP00000396884.1:p.Glu135Gln
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu135Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-175265782-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265782
    reference: chr 2
allele count: 39
allele frequency: 3.299157445944574e-4
allele num: 118212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+951A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.385A>C
  hgvsp: ENSP00000387142.3:p.Lys129Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.406A>C
  hgvsp: ENSP00000396884.1:p.Lys136Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.406A>C
  hgvsp: ENSP00000272732.6:p.Lys136Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.406A>C
  hgvsp: ENSP00000446727.1:p.Lys136Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000408376
  ensembl transcript: ENST00000427038
  gene symbol: SCRN3
  hgvsc: ENST00000427038.1:c.406A>C
  hgvsp: ENST00000427038.1:c.406A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+951A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.322A>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44572
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys136Gln
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

2-175265787-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265787
    reference: chr 2
allele count: 1
allele frequency: 8.443378702421561e-6
allele num: 118436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.390T>C
  hgvsp: ENST00000409673.3:c.390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.327T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.411T>C
  hgvsp: ENST00000272732.6:c.411T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+956T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.411T>C
  hgvsp: ENST00000458563.1:c.411T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.411T>C
  hgvsp: ENST00000548031.1:c.411T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+956T>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr137Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-175265789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265789
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265789
    reference: chr 2
allele count: 1
allele frequency: 8.433836552247617e-6
allele num: 118570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.329G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.413G>A
  hgvsp: ENSP00000272732.6:p.Gly138Asp
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.413G>A
  hgvsp: ENSP00000396884.1:p.Gly138Asp
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.392G>A
  hgvsp: ENSP00000387142.3:p.Gly131Asp
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.413G>A
  hgvsp: ENSP00000446727.1:p.Gly138Asp
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+958G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+958G>A
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly138Asp
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-175265792-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265792
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265792
    reference: chr 2
allele count: 1
allele frequency: 8.413117733169558e-6
allele num: 118862
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.416A>G
  hgvsp: ENSP00000272732.6:p.Gln139Arg
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.332A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.395A>G
  hgvsp: ENSP00000387142.3:p.Gln132Arg
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.416A>G
  hgvsp: ENSP00000446727.1:p.Gln139Arg
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.416A>G
  hgvsp: ENSP00000396884.1:p.Gln139Arg
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+961A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+961A>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln139Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

2-175265796-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265796
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265796
    reference: chr 2
allele count: 7
allele frequency: 5.902789489661686e-5
allele num: 118588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.336T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.420T>G
  hgvsp: ENST00000548031.1:c.420T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+965T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+965T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.399T>G
  hgvsp: ENST00000409673.3:c.399T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.420T>G
  hgvsp: ENST00000272732.6:c.420T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.420T>G
  hgvsp: ENST00000458563.1:c.420T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43411
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Gly140Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-175265805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265805
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265805
    reference: chr 2
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+974C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.429C>T
  hgvsp: ENST00000548031.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.429C>T
  hgvsp: ENST00000272732.6:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+974C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.345C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.429C>T
  hgvsp: ENST00000458563.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.408C>T
  hgvsp: ENST00000409673.3:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys143Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/2-175265810-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265810
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265810
    reference: chr 2
allele count: 6
allele frequency: 4.99417346429166e-5
allele num: 120140
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.434A>C
  hgvsp: ENSP00000272732.6:p.Glu145Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.434A>C
  hgvsp: ENSP00000396884.1:p.Glu145Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.434A>C
  hgvsp: ENSP00000446727.1:p.Glu145Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+979A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.413A>C
  hgvsp: ENSP00000387142.3:p.Glu138Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+979A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.350A>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51214
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu145Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

2-175265810-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265810
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265810
    reference: chr 2
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.434A>G
  hgvsp: ENSP00000446727.1:p.Glu145Gly
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.350A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.434A>G
  hgvsp: ENSP00000272732.6:p.Glu145Gly
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+979A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.413A>G
  hgvsp: ENSP00000387142.3:p.Glu138Gly
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.434A>G
  hgvsp: ENSP00000396884.1:p.Glu145Gly
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+979A>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu145Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-175265825-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265825
    reference: chr 2
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+994T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+994T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.449T>G
  hgvsp: ENSP00000396884.1:p.Phe150Cys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.449T>G
  hgvsp: ENSP00000272732.6:p.Phe150Cys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.428T>G
  hgvsp: ENSP00000387142.3:p.Phe143Cys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.365T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.449T>G
  hgvsp: ENSP00000446727.1:p.Phe150Cys
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe150Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-175265832-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265832
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265832
    reference: chr 2
allele count: 52
allele frequency: 4.300790683825719e-4
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.372T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1001T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.456T>C
  hgvsp: ENST00000458563.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.435T>C
  hgvsp: ENST00000409673.3:c.435T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.456T>C
  hgvsp: ENST00000548031.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.456T>C
  hgvsp: ENST00000272732.6:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1001T>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr152Tyr
num of homozygotes: 2
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

2-175265837-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265837
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265837
    reference: chr 2
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.461A>G
  hgvsp: ENSP00000446727.1:p.Asn154Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1006A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.440A>G
  hgvsp: ENSP00000387142.3:p.Asn147Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.461A>G
  hgvsp: ENSP00000272732.6:p.Asn154Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.377A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.461A>G
  hgvsp: ENSP00000396884.1:p.Asn154Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1006A>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn154Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

2-175265840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265840
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265840
    reference: chr 2
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.464G>A
  hgvsp: ENSP00000446727.1:p.Ser155Asn
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.443G>A
  hgvsp: ENSP00000387142.3:p.Ser148Asn
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.464G>A
  hgvsp: ENSP00000272732.6:p.Ser155Asn
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1009G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.464G>A
  hgvsp: ENSP00000396884.1:p.Ser155Asn
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.380G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1009G>A
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser155Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-175265845-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265845
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265845
    reference: chr 2
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.469C>A
  hgvsp: ENSP00000446727.1:p.Leu157Met
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.469C>A
  hgvsp: ENSP00000272732.6:p.Leu157Met
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1014C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.385C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.469C>A
  hgvsp: ENSP00000396884.1:p.Leu157Met
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.448C>A
  hgvsp: ENSP00000387142.3:p.Leu150Met
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1014C>A
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu157Met
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-175265848-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265848
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265848
    reference: chr 2
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.472A>C
  hgvsp: ENSP00000446727.1:p.Ile158Leu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.472A>C
  hgvsp: ENSP00000396884.1:p.Ile158Leu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.472A>C
  hgvsp: ENSP00000272732.6:p.Ile158Leu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1017A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.451A>C
  hgvsp: ENSP00000387142.3:p.Ile151Leu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.388A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1017A>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile158Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-175265856-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265856
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265855
    reference: chr 2
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.481delA
  hgvsp: ENSP00000272732.6:p.Arg161GlyfsTer32
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.481delA
  hgvsp: ENSP00000446727.1:p.Arg161GlyfsTer32
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.397delA
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1026delA
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.460delA
  hgvsp: ENSP00000387142.3:p.Arg154GlyfsTer32
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.481delA
  hgvsp: ENSP00000396884.1:p.Arg161GlyfsTer32
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1026delA
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg161GlyfsTer32
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: TA
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-175265858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265858
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265858
    reference: chr 2
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.482G>A
  hgvsp: ENSP00000396884.1:p.Arg161Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1027G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.461G>A
  hgvsp: ENSP00000387142.3:p.Arg154Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.482G>A
  hgvsp: ENSP00000446727.1:p.Arg161Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1027G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.482G>A
  hgvsp: ENSP00000272732.6:p.Arg161Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.398G>A
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg161Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-175265859-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265859
    reference: chr 2
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.483G>C
  hgvsp: ENSP00000396884.1:p.Arg161Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.483G>C
  hgvsp: ENSP00000272732.6:p.Arg161Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.399G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.462G>C
  hgvsp: ENSP00000387142.3:p.Arg154Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.483G>C
  hgvsp: ENSP00000446727.1:p.Arg161Ser
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1028G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1028G>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg161Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-175265866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265866
    reference: chr 2
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.490G>A
  hgvsp: ENSP00000446727.1:p.Ala164Thr
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.490G>A
  hgvsp: ENSP00000396884.1:p.Ala164Thr
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1035G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.469G>A
  hgvsp: ENSP00000387142.3:p.Ala157Thr
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.406G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.490G>A
  hgvsp: ENSP00000272732.6:p.Ala164Thr
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1035G>A
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala164Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

2-175265871-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265871
    reference: chr 2
allele count: 2
allele frequency: 1.650900566258894e-5
allele num: 121146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.411G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.474G>C
  hgvsp: ENSP00000387142.3:p.Trp158Cys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.495G>C
  hgvsp: ENSP00000396884.1:p.Trp165Cys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1040G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1040G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.495G>C
  hgvsp: ENSP00000272732.6:p.Trp165Cys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.495G>C
  hgvsp: ENSP00000446727.1:p.Trp165Cys
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp165Cys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

2-175265871-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265871
    reference: chr 2
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.411G>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.495G>T
  hgvsp: ENSP00000272732.6:p.Trp165Cys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1040G>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.474G>T
  hgvsp: ENSP00000387142.3:p.Trp158Cys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.495G>T
  hgvsp: ENSP00000446727.1:p.Trp165Cys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.495G>T
  hgvsp: ENSP00000396884.1:p.Trp165Cys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1040G>T
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp165Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

2-175265878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265878
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265878
    reference: chr 2
allele count: 2
allele frequency: 1.651145895251304e-5
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.502G>A
  hgvsp: ENSP00000272732.6:p.Glu168Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.481G>A
  hgvsp: ENSP00000387142.3:p.Glu161Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1047G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.502G>A
  hgvsp: ENSP00000396884.1:p.Glu168Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1047G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.502G>A
  hgvsp: ENSP00000446727.1:p.Glu168Lys
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.418G>A
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu168Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-175265883-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265883
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265883
    reference: chr 2
allele count: 6
allele frequency: 4.953683063357606e-5
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.507T>C
  hgvsp: ENST00000548031.1:c.507T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1052T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.507T>C
  hgvsp: ENST00000272732.6:c.507T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.486T>C
  hgvsp: ENST00000409673.3:c.486T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1052T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.423T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.507T>C
  hgvsp: ENST00000458563.1:c.507T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Thr169Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-175265890-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265890
    reference: chr 2
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.430A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.514A>G
  hgvsp: ENSP00000446727.1:p.Lys172Glu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.514A>G
  hgvsp: ENSP00000396884.1:p.Lys172Glu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1059A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.493A>G
  hgvsp: ENSP00000387142.3:p.Lys165Glu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.514A>G
  hgvsp: ENSP00000272732.6:p.Lys172Glu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1059A>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52760
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys172Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS

2-175265901-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265901
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265901
    reference: chr 2
allele count: 2
allele frequency: 1.65371258475277e-5
allele num: 120940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.504A>G
  hgvsp: ENST00000409673.3:c.504A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.525A>G
  hgvsp: ENST00000272732.6:c.525A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1070A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1070A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.525A>G
  hgvsp: ENST00000548031.1:c.525A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.441A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.525A>G
  hgvsp: ENST00000458563.1:c.525A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala175Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

2-175265910-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265910
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265910
    reference: chr 2
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1079A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.534A>G
  hgvsp: ENST00000272732.6:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1079A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.534A>G
  hgvsp: ENST00000458563.1:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.534A>G
  hgvsp: ENST00000548031.1:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.513A>G
  hgvsp: ENST00000409673.3:c.513A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.450A>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys178Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-175265912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265912
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265912
    reference: chr 2
allele count: 269
allele frequency: 2.229626682580731e-3
allele num: 120648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.515T>C
  hgvsp: ENSP00000387142.3:p.Val172Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.536T>C
  hgvsp: ENSP00000272732.6:p.Val179Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.536T>C
  hgvsp: ENSP00000446727.1:p.Val179Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1081T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.536T>C
  hgvsp: ENSP00000396884.1:p.Val179Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.452T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1081T>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 43346
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52026
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val179Ala
num of homozygotes: 3
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

2-175265938-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265938
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265938
    reference: chr 2
allele count: 1
allele frequency: 8.437536914224e-6
allele num: 118518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.457+21T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1107T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.541+21T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.541+21T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.520+21T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1107T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.541+21T>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

2-175265945-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265945
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265945
    reference: chr 2
allele count: 1
allele frequency: 8.461811843151855e-6
allele num: 118178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1114T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.541+28T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.520+28T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.541+28T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1114T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.541+28T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.457+28T>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-175265960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265960
    reference: chr 2
allele count: 2
allele frequency: 1.724970675498516e-5
allele num: 115944
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.541+43T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.520+43T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1129T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.541+43T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.541+43T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1129T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.457+43T>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5987
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-175265967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265967
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265967
    reference: chr 2
allele count: 4
allele frequency: 3.515370959520503e-5
allele num: 113786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.541+50C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.520+50C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.541+50C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1136C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.541+50C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1136C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.457+50C>T
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6792
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4183
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-175265969-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175265969
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175265969
    reference: chr 2
allele count: 1
allele frequency: 8.844548220476899e-6
allele num: 113064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.341+1138C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.520+52C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.457+52C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.341+1138C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.541+52C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.541+52C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.541+52C>A
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6807
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

2-175268783-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268783
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268783
    reference: chr 2
allele count: 13
allele frequency: 1.448919997325071e-4
allele num: 89722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.458-48T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.521-48T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.342-48T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.542-48T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.542-48T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.342-48T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.542-48T>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20075
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4738
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7427
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-175268784-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268784
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268784
    reference: chr 2
allele count: 1
allele frequency: 1.113461752588799e-5
allele num: 89810
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.542-47T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.342-47T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.542-47T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.458-47T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.342-47T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.521-47T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.542-47T>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20056
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10702
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4942
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-175268787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268787
    reference: chr 2
allele count: 1
allele frequency: 1.110395522885252e-5
allele num: 90058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.458-44A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.542-44A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.342-44A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.521-44A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.342-44A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.542-44A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.542-44A>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11321
  bin: 6.25e1
  variant carriers: 0
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: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

2-175268801-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268801
    reference: chr 2
allele count: 1
allele frequency: 1.069312859556449e-5
allele num: 93518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.458-30C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.342-30C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.342-30C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.542-30C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.542-30C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.542-30C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.521-30C>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-175268808-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268808
    reference: chr 2
allele count: 1
allele frequency: 1.010611419909045e-5
allele num: 98950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.542-23C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.542-23C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.542-23C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.458-23C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.342-23C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.342-23C>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.521-23C>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-175268811-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268808
    reference: chr 2
allele count: 3
allele frequency: 2.945797329143755e-5
allele num: 101840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.458-12_458-10delCTT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.342-12_342-10delCTT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.542-12_542-10delCTT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.342-12_342-10delCTT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.542-12_542-10delCTT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.542-12_542-10delCTT
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.521-12_521-10delCTT
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: CTCT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-175268835-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268835
    reference: chr 2
allele count: 1
allele frequency: 8.54686244679578e-6
allele num: 117002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.546A>C
  hgvsp: ENST00000458563.1:c.546A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.546A>C
  hgvsp: ENST00000548031.1:c.546A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.462A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.546A>C
  hgvsp: ENST00000272732.6:c.546A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.525A>C
  hgvsp: ENST00000409673.3:c.525A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.346A>C
  hgvsp: ENSP00000400421.1:p.Ser116Arg
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.346A>C
  hgvsp: ENSP00000447307.1:p.Ser116Arg
  variant of: http://identifiers.org/hgnc/30382
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser116Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-175268840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268840
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268840
    reference: chr 2
allele count: 7
allele frequency: 5.902789489661686e-5
allele num: 118588
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.551G>A
  hgvsp: ENSP00000272732.6:p.Arg184His
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.351G>A
  hgvsp: ENST00000437944.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.551G>A
  hgvsp: ENSP00000446727.1:p.Arg184His
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.351G>A
  hgvsp: ENST00000548868.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.467G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.530G>A
  hgvsp: ENSP00000387142.3:p.Arg177His
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.551G>A
  hgvsp: ENSP00000396884.1:p.Arg184His
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44313
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg184His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

2-175268845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268845
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268845
    reference: chr 2
allele count: 1
allele frequency: 8.37184381488179e-6
allele num: 119448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.472A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.535A>G
  hgvsp: ENSP00000387142.3:p.Ile179Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.556A>G
  hgvsp: ENSP00000272732.6:p.Ile186Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.556A>G
  hgvsp: ENSP00000396884.1:p.Ile186Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.556A>G
  hgvsp: ENSP00000446727.1:p.Ile186Val
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile186Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-175268856-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268856
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268856
    reference: chr 2
allele count: 2
allele frequency: 1.660991611992359e-5
allele num: 120410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.567A>G
  hgvsp: ENST00000548031.1:c.567A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.546A>G
  hgvsp: ENST00000409673.3:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.567A>G
  hgvsp: ENST00000272732.6:c.567A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.567A>G
  hgvsp: ENST00000458563.1:c.567A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.483A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53121
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln189Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-175268860-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268860
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268860
    reference: chr 2
allele count: 7
allele frequency: 5.802194887437419e-5
allele num: 120644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.550T>C
  hgvsp: ENSP00000387142.3:p.Ser184Pro
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.571T>C
  hgvsp: ENSP00000446727.1:p.Ser191Pro
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.571T>C
  hgvsp: ENSP00000272732.6:p.Ser191Pro
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*17T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.571T>C
  hgvsp: ENSP00000396884.1:p.Ser191Pro
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.487T>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*17T>C
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser191Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

2-175268860-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268860
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268860
    reference: chr 2
allele count: 2
allele frequency: 1.657769967839263e-5
allele num: 120644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.571T>G
  hgvsp: ENSP00000446727.1:p.Ser191Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.571T>G
  hgvsp: ENSP00000272732.6:p.Ser191Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.571T>G
  hgvsp: ENSP00000396884.1:p.Ser191Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*17T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.487T>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.550T>G
  hgvsp: ENSP00000387142.3:p.Ser184Ala
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*17T>G
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser191Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-175268864-T-TTGTTATGGAAAGTTGCCATAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268886
    reference: chr 2
allele count: 2
allele frequency: 1.656232402530723e-5
allele num: 120756
alternate allele: TTGTTATGGAAAGTTGCCATAAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsp: ENSP00000387142.3:p.Thr186ValfsTer23
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsp: ENSP00000272732.6:p.Thr193ValfsTer23
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsp: ENSP00000446727.1:p.Thr193ValfsTer23
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsp: ENSP00000396884.1:p.Thr193ValfsTer23
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10908
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr193ValfsTer23
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-175268874-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268874
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268874
    reference: chr 2
allele count: 7
allele frequency: 5.786080343858489e-5
allele num: 120980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.564G>C
  hgvsp: ENSP00000387142.3:p.Lys188Asn
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*31G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.501G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*31G>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.585G>C
  hgvsp: ENSP00000396884.1:p.Lys195Asn
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.585G>C
  hgvsp: ENSP00000272732.6:p.Lys195Asn
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.585G>C
  hgvsp: ENSP00000446727.1:p.Lys195Asn
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys195Asn
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

2-175268879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268879
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268879
    reference: chr 2
allele count: 2
allele frequency: 1.652564780539397e-5
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.590C>T
  hgvsp: ENSP00000396884.1:p.Ala197Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.590C>T
  hgvsp: ENSP00000272732.6:p.Ala197Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.569C>T
  hgvsp: ENSP00000387142.3:p.Ala190Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.590C>T
  hgvsp: ENSP00000446727.1:p.Ala197Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.506C>T
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala197Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

2-175268881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268881
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268881
    reference: chr 2
allele count: 12
allele frequency: 9.914405631382399e-5
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.571C>T
  hgvsp: ENSP00000387142.3:p.Arg191Trp
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.508C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.592C>T
  hgvsp: ENSP00000446727.1:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.592C>T
  hgvsp: ENSP00000272732.6:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.592C>T
  hgvsp: ENSP00000396884.1:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg198Trp
num of homozygotes: 1
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-175268882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268882
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268882
    reference: chr 2
allele count: 6
allele frequency: 4.956465709518066e-5
allele num: 121054
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.593G>A
  hgvsp: ENSP00000272732.6:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.572G>A
  hgvsp: ENSP00000387142.3:p.Arg191Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*39G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.593G>A
  hgvsp: ENSP00000396884.1:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.593G>A
  hgvsp: ENSP00000446727.1:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*39G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.509G>A
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg198Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-175268890-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268890
    reference: chr 2
allele count: 6
allele frequency: 4.954828480354105e-5
allele num: 121094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.601C>A
  hgvsp: ENSP00000396884.1:p.Pro201Thr
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*47C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.601C>A
  hgvsp: ENSP00000272732.6:p.Pro201Thr
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.601C>A
  hgvsp: ENSP00000446727.1:p.Pro201Thr
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.580C>A
  hgvsp: ENSP00000387142.3:p.Pro194Thr
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*47C>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.517C>A
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro201Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-175268896-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268896
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268896
    reference: chr 2
allele count: 3
allele frequency: 2.476841531678803e-5
allele num: 121122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.607A>G
  hgvsp: ENSP00000446727.1:p.Met203Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.607A>G
  hgvsp: ENSP00000272732.6:p.Met203Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.523A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.586A>G
  hgvsp: ENSP00000387142.3:p.Met196Val
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.607A>G
  hgvsp: ENSP00000396884.1:p.Met203Val
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met203Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-175268896-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268896
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268896
    reference: chr 2
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*53A>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.586A>T
  hgvsp: ENSP00000387142.3:p.Met196Leu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*53A>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.607A>T
  hgvsp: ENSP00000272732.6:p.Met203Leu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.607A>T
  hgvsp: ENSP00000446727.1:p.Met203Leu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.607A>T
  hgvsp: ENSP00000396884.1:p.Met203Leu
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.523A>T
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met203Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-175268898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268898
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268898
    reference: chr 2
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*55G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.609G>A
  hgvsp: ENSP00000272732.6:p.Met203Ile
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.609G>A
  hgvsp: ENSP00000396884.1:p.Met203Ile
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.609G>A
  hgvsp: ENSP00000446727.1:p.Met203Ile
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.525G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.588G>A
  hgvsp: ENSP00000387142.3:p.Met196Ile
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*55G>A
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met203Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-175268902-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268902
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268902
    reference: chr 2
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*59A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*59A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.613A>C
  hgvsp: ENSP00000272732.6:p.Asn205His
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.529A>C
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.592A>C
  hgvsp: ENSP00000387142.3:p.Asn198His
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.613A>C
  hgvsp: ENSP00000446727.1:p.Asn205His
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.613A>C
  hgvsp: ENSP00000396884.1:p.Asn205His
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn205His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-175268914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268914
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268914
    reference: chr 2
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.625C>T
  hgvsp: ENSP00000272732.6:p.Arg209Trp
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*71C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000446727
  ensembl transcript: ENST00000548031
  gene symbol: SCRN3
  hgvsc: ENST00000548031.1:c.625C>T
  hgvsp: ENSP00000446727.1:p.Arg209Trp
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.541C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*71C>T
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.604C>T
  hgvsp: ENSP00000387142.3:p.Arg202Trp
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.625C>T
  hgvsp: ENSP00000396884.1:p.Arg209Trp
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg209Trp
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-175268915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 175268915
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 175268915
    reference: chr 2
allele count: 9
allele frequency: 7.428194123473093e-5
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000400421
  ensembl transcript: ENST00000437944
  gene symbol: SCRN3
  hgvsc: ENST00000437944.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000387142
  ensembl transcript: ENST00000409673
  gene symbol: SCRN3
  hgvsc: ENST00000409673.3:c.605G>A
  hgvsp: ENSP00000387142.3:p.Arg202Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000447307
  ensembl transcript: ENST00000548868
  gene symbol: SCRN3
  hgvsc: ENST00000548868.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000396884
  ensembl transcript: ENST00000458563
  gene symbol: SCRN3
  hgvsc: ENST00000458563.1:c.626G>A
  hgvsp: ENSP00000396884.1:p.Arg209Gln
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144306
  ensembl transcript: ENST00000490927
  gene symbol: SCRN3
  hgvsc: ENST00000490927.1:n.542G>A
  variant of: http://identifiers.org/hgnc/30382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144306
  ensembl protein: ENSP00000272732
  ensembl transcript: ENST00000272732
  gene symbol: SCRN3
  hgvsc: ENST00000272732.6:c.626G>A
  hgvsp: ENSP00000272732.6:p.Arg209Gln
  variant of: http://identifiers.org/hgnc/30382
canonical: true
consequence: missense
filter: PASS
hgvs: p.Arg209Gln
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5164
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7567
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5840
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.882572392965002e-5
allele num: 11258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.239e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 4.37698e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.24e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.429e0

QD
type: SiteQuality
SIO_000300: 1.717e1

GenotypeQuality
all individuals: 250
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15272
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 5665
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4177
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 192
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 639
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10886
bin: 2.25e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

South Asian
type: Population
allele count: 46
allele frequency: 5.55019305019305e-3
allele num: 8288
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 4.45493e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.32e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 1.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

MQ
type: SiteQuality
SIO_000300: 6.134e1

GenotypeQuality
all individuals: 2804
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 5665
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1005
bin: 9.75e1
variant carriers: 181

GenotypeQuality
all individuals: 888
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 250
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2455
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2183
bin: 2.75e1
variant carriers: 12

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 20

GenotypeQuality
all individuals: 639
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 20

European (Finnish)
type: Population
allele count: 39
allele frequency: 3.463587921847247e-2
allele num: 1126
num of homozygotes: 1

African
type: Population
allele count: 2
allele frequency: 9.293680297397769e-4
allele num: 2152
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.868131868131869e-4
allele num: 1456
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 7.874015748031496e-3
allele num: 254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 95
allele frequency: 8.302744275476316e-3
allele num: 11442
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 2.051158301158301e-3
allele num: 8288
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 1.056e0

DP
type: SiteQuality
SIO_000300: 4.45493e5

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.32e-2

MQ
type: SiteQuality
SIO_000300: 6.134e1

GenotypeQuality
all individuals: 2518
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16857
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 257
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.77e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 4.77342e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 2.35e1

GenotypeQuality
all individuals: 966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30865
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8869
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2768
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.130198915009042e-4
allele num: 8848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14932
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: -2.011e0

FS
type: SiteQuality
SIO_000300: 4.674e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.245e0

QD
type: SiteQuality
SIO_000300: 1.541e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQ
type: SiteQuality
SIO_000300: 5.678e1

DP
type: SiteQuality
SIO_000300: 6.14787e5

GenotypeQuality
all individuals: 10191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1196
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.35946248600224e-4
allele num: 8930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1882
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

DP
type: SiteQuality
SIO_000300: 6.28191e5

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
all individuals: 13318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1425
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6397
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20080
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.069367710251688e-4
allele num: 3258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.263e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 5.334e0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -7.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 7.12851e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

GenotypeQuality
all individuals: 299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1416
bin: 9.75e1
variant carriers: 636

GenotypeQuality
all individuals: 1296
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 579
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 4860
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 15405
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 17

GenotypeQuality
all individuals: 197
bin: 4.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 12
allele frequency: 4.137931034482759e-3
allele num: 2900
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 2.789046653144016e-3
allele num: 3944
num of homozygotes: 0

Latino
type: Population
allele count: 40
allele frequency: 1.00150225338007e-2
allele num: 3994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 566
allele frequency: 2.430645022760457e-2
allele num: 23286
num of homozygotes: 5

South Asian
type: Population
allele count: 22
allele frequency: 2.252252252252252e-3
allele num: 9768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1952
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 2.054794520547945e-2
allele num: 438
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.602e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.62012e5

GenotypeQuality
all individuals: 368
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40705
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.015434606011373e-4
allele num: 9848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.546e0

DP
type: SiteQuality
SIO_000300: 1.171688e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.125e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 112
bin: 8.75e1
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GenotypeQuality
all individuals: 304
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.265822784810127e-3
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.515723270440251e-4
allele num: 7950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13796
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.015434606011373e-4
allele num: 9848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52370
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 1.171688e6

QD
type: SiteQuality
SIO_000300: 1.125e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.546e0

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10812
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.27258844489692e-4
allele num: 7858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.155e0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.224e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

DP
type: SiteQuality
SIO_000300: 1.281583e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 9.08e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 114
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GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15224
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.24898261191269e-5
allele num: 10812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.224e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 3.155e0

DP
type: SiteQuality
SIO_000300: 1.281583e6

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 122
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.037559659680432e-4
allele num: 9638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.254e1

VQSLOD
type: SiteQuality
SIO_000300: -5.631e-1

FS
type: SiteQuality
SIO_000300: 3.79e0

MQRankSum
type: SiteQuality
SIO_000300: -1.725e0

DP
type: SiteQuality
SIO_000300: 1.327511e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 167
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 125
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.309148264984228e-5
allele num: 15850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.325e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.022e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.175e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.744e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.509e1

DP
type: SiteQuality
SIO_000300: 1.337625e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 170
bin: 4.25e1
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GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63660
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.011122345803842e-4
allele num: 9890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.554e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.297e-1

DP
type: SiteQuality
SIO_000300: 1.34668e6

MQ
type: SiteQuality
SIO_000300: 5.834e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561426519268003e-5
allele num: 64044
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.353837e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 508
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548802775454574e-5
allele num: 64566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 255
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48868
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 39
allele frequency: 3.858330035615354e-3
allele num: 10108
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64694
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.563e1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 1.368406e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 405
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542543345468008e-5
allele num: 64828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.631e0

DP
type: SiteQuality
SIO_000300: 1.372636e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.344e0

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.696e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 419
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.866820358219543e-5
allele num: 11278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64912
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.821e0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

DP
type: SiteQuality
SIO_000300: 1.37468e6

QD
type: SiteQuality
SIO_000300: 1.326e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
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variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.215e0

QD
type: SiteQuality
SIO_000300: 1.25e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

DP
type: SiteQuality
SIO_000300: 1.377852e6

GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3781
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 857
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 767
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variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
all individuals: 513
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variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 5.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.893153937475267e-5
allele num: 10108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.160670280926565e-5
allele num: 64928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.537988311288834e-4
allele num: 6502
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.857395925597875e-5
allele num: 11290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.05745e2

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
type: SiteQuality
SIO_000300: -5.253e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.335e0

DP
type: SiteQuality
SIO_000300: 1.395358e6

QD
type: SiteQuality
SIO_000300: 8.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50456
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 929
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GenotypeQuality
all individuals: 856
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 783
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variant carriers: 0

GenotypeQuality
all individuals: 976
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variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.52114390021296e-4
allele num: 6574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 5.99e0

VQSLOD
type: SiteQuality
SIO_000300: -1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.401042e6

FS
type: SiteQuality
SIO_000300: 6.61e0

GenotypeQuality
all individuals: 981
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4169
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variant carriers: 0

GenotypeQuality
all individuals: 216
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GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 139
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GenotypeQuality
all individuals: 859
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variant carriers: 0

GenotypeQuality
all individuals: 187
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GenotypeQuality
all individuals: 152
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variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.904725019364833e-4
allele num: 10328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759943681802182e-4
allele num: 11364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.406905e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.404e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 51214
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 418
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variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.404e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.406905e6

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 975
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GenotypeQuality
all individuals: 141
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GenotypeQuality
all individuals: 182
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GenotypeQuality
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GenotypeQuality
all individuals: 4256
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variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
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: 8648
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507477086348288e-5
allele num: 66336
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.41e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.341e0

DP
type: SiteQuality
SIO_000300: 1.417672e6

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 1025
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variant carriers: 49

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 43
allele frequency: 3.771929824561403e-3
allele num: 11400
num of homozygotes: 2

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.203478051569034e-4
allele num: 66474
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 6.88e-2

BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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QD
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DP
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FS
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ReadPosRankSum
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SIO_000300: 4.4e-1

MQRankSum
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SIO_000300: 9.0e-2

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.29e0

FS
type: SiteQuality
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DP
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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SIO_000300: -6.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
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SIO_000300: 4.7e-2

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

Latino
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allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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SIO_000300: -9.549e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.423627e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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FS
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SIO_000300: 3.484e0

MQRankSum
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SIO_000300: -3.1e-1

VQSLOD
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -2.72e0

QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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SIO_000300: 1.424827e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.425131e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.426088e6

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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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MQRankSum
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DP
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InbreedingCoeff
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FS
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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allele frequency: 1.923076923076923e-4
allele num: 10400
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 1.0e-4

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.745e0

QD
type: SiteQuality
SIO_000300: 1.274e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0699e1

VQSLOD
type: SiteQuality
SIO_000300: -9.757e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.426635e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.004952723998198e-5
allele num: 66630
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 5.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.426717e6

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.035e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.628e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

DP
type: SiteQuality
SIO_000300: 1.426207e6

FS
type: SiteQuality
SIO_000300: 1.4558e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 2.365e0

QD
type: SiteQuality
SIO_000300: 1.272e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

DP
type: SiteQuality
SIO_000300: 1.423959e6

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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: 1
allele frequency: 1.507658907248824e-5
allele num: 66328
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.011e0

FS
type: SiteQuality
SIO_000300: 1.993e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

DP
type: SiteQuality
SIO_000300: 1.42028e6

QD
type: SiteQuality
SIO_000300: 1.25e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 266

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
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allele frequency: 1.214919207872676e-4
allele num: 16462
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
type: Population
allele count: 259
allele frequency: 2.500482718671558e-2
allele num: 10358
num of homozygotes: 3

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.137120813606874e-4
allele num: 11406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66286
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.532e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

VQSLOD
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SIO_000300: 5.07e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 6.0e-1

DP
type: SiteQuality
SIO_000300: 1.433436e6

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538130248869474e-5
allele num: 65014
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

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

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

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

Other
type: Population
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.543066999969139e-5
allele num: 64806
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Latino
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allele num: 11268
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.26151129052605e-4
allele num: 15854
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63418
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8202
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 5.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

VQSLOD
type: SiteQuality
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QD
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SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

DP
type: SiteQuality
SIO_000300: 1.204772e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.431902235086026e-5
allele num: 62190
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.573e0

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.845e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10952
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.6178088397075e-5
allele num: 61812
num of homozygotes: 0

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
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SIO_000300: 5.77e-1

InbreedingCoeff
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SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.215316e6

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Non-Finnish)
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allele count: 13
allele frequency: 2.718186760339564e-4
allele num: 47826
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

QD
type: SiteQuality
SIO_000300: 1.568e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.4819e5

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

Latino
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allele frequency: 1.201345506967804e-4
allele num: 8324
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13038
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 9.51087e5

QD
type: SiteQuality
SIO_000300: 1.805e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.082552376192261e-5
allele num: 48018
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.64621e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
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allele frequency: 7.376807317792859e-5
allele num: 13556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49896
num of homozygotes: 0

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

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.095357e6

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6768
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.889573334341106e-5
allele num: 52922
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

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

Other
type: Population
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allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.371544167228591e-4
allele num: 8898
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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 count: 0
allele frequency: 0.0e0
allele num: 54626
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 frequency: 0.0e0
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South Asian
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Other
type: Population
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African
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Latino
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num of homozygotes: 0

South Asian
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allele frequency: 6.247657128576784e-5
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.075787401574803e-5
allele num: 65024
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.853224610822832e-4
allele num: 16188
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.446068e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.269e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 3.814e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.767532721234616e-5
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65584
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
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VQSLOD
type: SiteQuality
SIO_000300: -4.653e-1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.245e0

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.18e0

QD
type: SiteQuality
SIO_000300: 1.805e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.021604471974619e-5
allele num: 66190
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

DP
type: SiteQuality
SIO_000300: 1.467562e6

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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: 7
allele frequency: 1.054947704735208e-4
allele num: 66354
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

DP
type: SiteQuality
SIO_000300: 1.470767e6

FS
type: SiteQuality
SIO_000300: 2.813e0

QD
type: SiteQuality
SIO_000300: 1.276e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 2.813e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.470767e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
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GenotypeQuality
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GenotypeQuality
all individuals: 1509
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 609
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GenotypeQuality
all individuals: 302
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.93012931866435e-4
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.472498e6

MQ
type: SiteQuality
SIO_000300: 5.379e1

MQRankSum
type: SiteQuality
SIO_000300: -4.399e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 1.3179e1

QD
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.738e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.051303616484441e-4
allele num: 66584
num of homozygotes: 0

East Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.475874e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
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allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.477291e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.0508301558231e-4
allele num: 66614
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
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allele frequency: 3.032508491023775e-4
allele num: 16488
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Other
type: Population
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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allele num: 906
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African
type: Population
allele count: 6
allele frequency: 5.775895263765884e-4
allele num: 10388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.478735e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.772561092938234e-4
allele num: 10394
num of homozygotes: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.479483e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.973e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

FS
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

GenotypeQuality
all individuals: 605
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5004500450045e-5
allele num: 66660
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 1.479606e6

GenotypeQuality
all individuals: 609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.479606e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3346
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
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: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

DP
type: SiteQuality
SIO_000300: 1.479792e6

MQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.162e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.501e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

DP
type: SiteQuality
SIO_000300: 1.479758e6

QD
type: SiteQuality
SIO_000300: 7.46e0

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 66670
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.789e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.137e0

VQSLOD
type: SiteQuality
SIO_000300: -2.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.37e-1

MQ
type: SiteQuality
SIO_000300: 5.789e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

DP
type: SiteQuality
SIO_000300: 1.480528e6

QD
type: SiteQuality
SIO_000300: 1.226e1